Database of Pathogenic Variants
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Gene Detail
Gene Symbol
PSEN1
Gene:5663
HGNC:9508
Gene Name
presenilin 1
Chromosome
14
Cytogenetic Band
q24.2
RefSeq Accession
NM_000021
Associated Diseases
Alzheimer disease 1
Associated Variants
NM_000021.3:c.254T>C
NM_000021.3:c.286G>T
NM_000021.3:c.625G>A
NM_000021.3:c.638T>C
NM_000021.3:c.650G>A
NM_000021.3:c.748T>G
NM_000021.3:c.779C>T
NM_000021.3:c.796G>A
NM_000021.3:c.806G>A
NM_000021.3:c.818A>C
NM_000021.3:c.839A>C
NM_000021.3:c.844C>T
NM_000021.3:c.854C>T
NM_000021.3:c.856C>G
NM_000021.3:c.1133G>A
NM_000021.3:c.1141C>G
NM_000021.3:c.1151G>C
NM_000021.3:c.1158C>A
NM_000021.3:c.1174C>G
NM_000021.3:c.1214A>G
NM_000021.3:c.1259T>C
NM_000021.3:c.1292C>T