Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM010064

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_174_MPL_159530_0008, 4172

This variant has 10 HGVS names - click the plus to show

About this variant

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

Variant displays