Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 1:226885545 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM000203

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 8 transcripts and is associated with 3 phenotypes.

Variant displays