Original source

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

HGMD-PUBLIC CM980659

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.169555300T>C
ENST00000367796.3:c.1000A>G
ENSP00000356770.3:p.Arg334Gly
ENST00000367797.7:c.1000A>G
ENSP00000356771.3:p.Arg334Gly
LRG_553:g.36232A>G
LRG_553t1:c.1000A>G
LRG_553p1:p.Arg334Gly

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

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

Variant displays