Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 1:229432134 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM043253 ; PhenCode ACTA1:c.668T>C (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_001100.3:c.668T>C

HGVS names

This variant has 7 HGVS names - Hide

1:g.229432134A>G
ENST00000366683.3:c.480-272T>C
ENST00000366684.7:c.668T>C
ENSP00000355645.3:p.Leu223Pro
LRG_429:g.6963T>C
LRG_429t1:c.668T>C
LRG_429p1:p.Leu223Pro

About this variant

This variant overlaps 3 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays