Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: < 0.01 (G)
Location

Chromosome 1:169555299 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980658

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

1:g.169555299C>G
ENST00000367796.3:c.1001G>C
ENSP00000356770.3:p.Arg334Thr
ENST00000367797.7:c.1001G>C
ENSP00000356771.3:p.Arg334Thr
LRG_553:g.36233G>C
LRG_553t1:c.1001G>C
LRG_553p1:p.Arg334Thr

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays