Original source

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

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

Chromosome 1:183574507 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CP973607

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17279_2

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays