Variant Detail

Variant Information
ID
DPV: 8158
Chromosome
11
Gene
HGVS (GRCh37/hg19)
NC_000011.9:g.64366092_64366322delinsTGG
HGVS (GRCh38/hg38)
NC_000011.10:g.64598620_64598850delAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCinsTGG
HGVS (RNA)
NM_144585.3:c.935_997delinsTGG
HGVS (Protein)
NP_653186.2:p.?
dbSNP
-
ClinGen Allele Registry
-
Allele Frequency
Individual Information

ID
DPVS:8730.1
Clinical Significance
Pathogenic
Date Last Evaluated
2019-03-29
Clinical Significance Citation
Fujita, K. A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia. 2016 Clin Chim Acta. 2016 Dec 1;463:119-121. doi: 10.1016/j.cca.2016.10.025. Epub 2016 Oct 22. PMID:27780716

Transcript
-
Disease

Phenotype
-
Zygosity
compound heterozygote
Allele Origin
germline
Affected Status
yes
Sample Type
  • DNA
Analysis Type
  • SEQuencing
Collection Method
literature only
Compound heterozygous variant(s)
Data Submitter
Comment
c.[774G>A];[935_997delinsTGG]

ClinVar
Model Animals
VCF
VCF (GRCh37/hg19) 
											##fileformat=VCFv4.0
##reference=GRCh37
##INFO=<ID=CLNALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN (from ClinVar)">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB (from ClinVar)">
##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.(from ClinVar)">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant (from ClinVar)">
##INFO=<ID=EXAC_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from ExAC r1)">
##INFO=<ID=EXAC_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from ExAC r1)">
##INFO=<ID=EXAC_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from ExAC r1)">
##INFO=<ID=EXAC_FILTER,Number=1,Type=String,Description="calculated by self of overlapping values in field FILTER (from ExAC r1)">
##INFO=<ID=GNOMAD_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from gnomAD v2.1.1 )">
##INFO=<ID=HGVD_AAF,Number=A,Type=Float,Description="Alternative Allele Frequency(s) NA/(NR+NAtotal) (from HGVD/DBexome20170802)">
##INFO=<ID=HGVD_AC,Number=A,Type=Integer,Description="number(s) of alternative allele(s) (from HGVD/DBexome20170802)">
##INFO=<ID=HGVD_NR,Number=1,Type=Integer,Description="number of reference allele (from HGVD/DBexome20170802)">
##INFO=<ID=TOMMO_4_7K_AC,Number=A,Type=Integer,Description="Allele count in genotypes (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=TOMMO_4_7K_AF,Number=A,Type=Float,Description="Allele frequency, for each ALT allele, in the same order as listed  (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=TOMMO_4_7K_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from ToMMo 4.7KJPN (20190826))">
##INFO=<ID=dbSNP_RSID,Number=1,Type=String,Description="dbSNP ID (from dbSNP b151 )">
##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:)">
##INFO=<ID=DPVID,Number=.,Type=String,Description="DPV Variant ID">
##INFO=<ID=DPVSIG,Number=.,Type=String,Description="Variant Clinical Significance">
##INFO=<ID=DPVDSDBID,Number=.,Type=String,Description="Variant disease database ID">
##INFO=<ID=DPVDBN,Number=.,Type=String,Description="Variant disease name">
##INFO=<ID=DPVHGVS,Number=.,Type=String,Description="Variant in HGVS.">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
11	64366091	NC_000011.9:g.64366092_64366322delinsTGG	CAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGC	CTGG	.	.	GENEINFO=17989:116085;DPVID=8158;DPVSIG=Pathogenic;DPVDSDBID=OMIM:220150|OMIM:612076;DPVDBN=Hypouricemia_renal_1|Hypouricemia_renal_2;DPVHGVS=NC_000011.9:g.64366092_64366322delinsTGG	.
VCF (GRCh38/hg38) 
											##fileformat=VCFv4.0
##reference=GRCh38
##INFO=<ID=CLNALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN (from ClinVar)">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB (from ClinVar)">
##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.(from ClinVar)">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant (from ClinVar)">
##INFO=<ID=GNOMAD_AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed (from gnomAD v2.1.1 )">
##INFO=<ID=GNOMAD_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes (from gnomAD v2.1.1 )">
##INFO=<ID=dbSNP_RSID,Number=1,Type=String,Description="dbSNP ID (from dbSNP b151 )">
##originalFile=</tmp/crossmap-input-e27_k88u>
##targetRefGenome=</usr/lib64/python2.7/site-packages/transvar/transvar.download/hg38.fa>
##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Pairs each of gene symbol:gene id. The gene symbol and id are delimited by a colon (:)">
##INFO=<ID=DPVID,Number=.,Type=String,Description="DPV Variant ID">
##INFO=<ID=DPVSIG,Number=.,Type=String,Description="Variant Clinical Significance">
##INFO=<ID=DPVDSDBID,Number=.,Type=String,Description="Variant disease database ID">
##INFO=<ID=DPVDBN,Number=.,Type=String,Description="Variant disease name">
##INFO=<ID=DPVHGVS,Number=.,Type=String,Description="Variant in HGVS.">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
11	64598619	NC_000011.9:g.64366092_64366322delinsTGG	CAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGC	CTGG	.	.	GENEINFO=17989:116085;DPVID=8158;DPVSIG=Pathogenic;DPVDSDBID=OMIM:220150|OMIM:612076;DPVDBN=Hypouricemia_renal_1|Hypouricemia_renal_2;DPVHGVS=NC_000011.10:g.64598620_64598850delAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCinsTGG	.