Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 1:183586922 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM992935

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays