Original source

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

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

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_001100.3:c.668T>C

This variation has 4 HGVS names - click the plus to show

1:g.229432134A>G
ENST00000366683.3:c.480-272T>C
ENST00000366684.6:c.668T>C
ENSP00000355645.3:p.Leu223Pro

About this variant

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

Variation displays