Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: 0.01 (C)
Location

Chromosome 1:17054012 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM083557

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

1:g.17054012G>C
ENST00000375499.7:c.8C>G
ENSP00000364649.3:p.Ala3Gly
ENST00000466613.2:n.20C>G
LRG_316:g.5159C>G
LRG_316t1:c.8C>G
LRG_316p1:p.Ala3Gly

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2507 sample genotypes and is associated with 5 phenotypes.

Variant displays