Variant (rsID / SNP)

rs104893740

rs104893740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNAT1. Location: chromosome 3, position 50,230,572. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNAT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:50230572
Cytoband: 3p21.31
HGVS: NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)
Allele change: Missense_G38D

Associated conditions / phenotypes

Congenital stationary night blindness autosomal dominant 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.