Original source

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

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

Chromosome 1:43340096 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM010064

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_174_MPL_159530_0008, 4172

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays