Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146253044

SLC24A1

rs146253044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC24A1. Location: chromosome 15, position 65,943,251. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC24A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:65943251
Cytoband
15q22.31
HGVS
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg)
Allele change
Missense_W904R

Associated conditions / phenotypes

Congenital stationary night blindness 1D

Public references

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