Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 17:42903947 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930261

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 11 HGVS names - click the plus to show

17:g.42903947C>T
ENST00000585489.1:c.247C>T
ENSP00000466202.1:p.Arg83Cys
ENST00000588481.1:n.312C>T
ENST00000592383.4:c.247C>T
ENSP00000465958.1:p.Arg83Cys
ENST00000253801.5:c.247C>T
ENSP00000253801.1:p.Arg83Cys
LRG_147:g.8150C>T
LRG_147t1:c.247C>T
LRG_147p1:p.Arg83Cys

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2 individual genotypes, is associated with 4 phenotypes and is mentioned in 7 citations.

Variation displays