Original source

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

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

Chromosome 1:173914725 (forward strand)|View in location tab

Co-located variants

COSMIC COSM899818 ; HGMD-PUBLIC CM890016

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

1:g.173914725C>T
ENST00000494024.1:n.462G>A
ENST00000367698.3:c.236G>A
ENSP00000356671.3:p.Arg79His
ENST00000617423.4:c.236G>A
ENSP00000478688.1:p.Arg79His
LRG_577:g.7654G>A
LRG_577t1:c.236G>A
LRG_577p1:p.Arg79His

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays