Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 17:81510824 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032828

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_005_ACTG1_102560_0003

This variant has 17 HGVS names - click the plus to show

17:g.81510824G>C
ENST00000576209.5:n.879C>G
ENST00000572105.6:c.*438C>G
ENST00000576917.5:n.1126C>G
ENST00000615544.4:c.994C>G
ENSP00000477968.1:p.Pro332Ala
ENST00000575842.5:c.994C>G
ENSP00000458162.1:p.Pro332Ala
ENST00000573283.5:c.994C>G
ENSP00000458435.1:p.Pro332Ala
ENST00000574671.5:n.853C>G
ENST00000331925.6:c.994C>G
ENSP00000331514.2:p.Pro332Ala
ENST00000575087.5:c.994C>G
ENSP00000459124.1:p.Pro332Ala
ENST00000576544.5:c.994C>G
ENSP00000461672.1:p.Pro332Ala

About this variant

This variant overlaps 19 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays