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 17:48728343 (forward strand)|View in location tab

Co-located variant

COSMIC COSM3889825

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

ClinVar SCV000149878

HGVS names

This variant has 6 HGVS names - Hide

17:g.48728343C>T
ENST00000290295.7:c.251G>A
ENSP00000290295.7:p.Gly84Glu
LRG_771:g.5407G>A
LRG_771t1:c.251G>A
LRG_771p1:p.Gly84Glu

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 10 citations.

Variant displays