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 17:42911391 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940797

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

17:g.42911391C>T
ENST00000585489.1:c.*431C>T
ENST00000253801.5:c.1039C>T
ENSP00000253801.1:p.Gln347Ter
LRG_147:g.15594C>T
LRG_147t1:c.1039C>T
LRG_147p1:p.Gln347Ter

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variation displays