Variant (rsID / SNP)

rs376610215

rs376610215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRIT3. Location: chromosome 4, position 110,790,888. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRIT3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:110790888
Cytoband: 4q25
HGVS: NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr)
Allele change: Missense_C328Y

Associated conditions / phenotypes

Congenital stationary night blindness 1F

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.