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 1:236895470 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM961003

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4044

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays