Original source

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

with COSMIC COSM899818 (C/T) ; HGMD-PUBLIC CM890016

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

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

Genotyping chips

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

About this variant

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

Variant displays