Original source

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

with HGMD-PUBLIC CM980658

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

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

About this variant

This variant overlaps 2 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays