Original source

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

Alleles
A/G/T|Ancestral: A|Ambiguity code: D
Location

Chromosome 4:73413589 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM973674, CM995269

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB Bergamo, Brest

HGVS names

This variant has 38 HGVS names - Show

About this variant

This variant overlaps 36 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays