Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: < 0.01 (C)
Location

Chromosome 1:169555300 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980659

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.169555300T>C
ENST00000367796.3:c.1000A>G
ENSP00000356770.3:p.Arg334Gly
ENST00000367797.7:c.1000A>G
ENSP00000356771.3:p.Arg334Gly

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

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

Variant displays