Original source

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

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

Chromosome 1:229431633 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM043255 ; PhenCode ACTA1:c.1000C>T (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_001100.3:c.1000C>T

HGVS names

This variant has 8 HGVS names - Hide

1:g.229431633G>A
ENST00000366683.3:c.631C>T
ENSP00000355644.3:p.Pro211Ser
ENST00000366684.7:c.1000C>T
ENSP00000355645.3:p.Pro334Ser
LRG_429:g.7464C>T
LRG_429t1:c.1000C>T
LRG_429p1:p.Pro334Ser

About this variant

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

Variant displays