Database of Pathogenic Variants
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Gene Detail
Gene Symbol
NR5A1
Gene:2516
HGNC:7983
Gene Name
nuclear receptor subfamily 5 group A member 1
Chromosome
9
Cytogenetic Band
q33.3
RefSeq Accession
NM_004959
Associated Diseases
46,XX sex reversal 4
Associated Variants
NM_004959.4:c.274C>T