Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 1:229432660 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM034494, CM992119 ; PhenCode ACTA1:c.350A>G (T/C), ACTA1:c.350A>C (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Hide

1:g.229432660T>C
ENST00000366683.3:c.350A>G
ENSP00000355644.3:p.Asn117Ser
ENST00000366684.7:c.350A>G
ENSP00000355645.3:p.Asn117Ser
LRG_429:g.6437A>G
LRG_429t1:c.350A>G
LRG_429p1:p.Asn117Ser

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays