Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

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

Co-located variant

HGMD-PUBLIC CM940797

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele T
17:g.42911391C>T
ENST00000585489.1:c.*431C>T
ENST00000253801.6:c.1039C>T
ENSP00000253801.1:p.Gln347Ter
LRG_147:g.15594C>T
LRG_147t1:c.1039C>T
LRG_147p1:p.Gln347Ter

Variant allele G
17:g.42911391C>G
ENST00000585489.1:c.*431C>G
ENST00000253801.6:c.1039C>G
ENSP00000253801.1:p.Gln347Glu
LRG_147:g.15594C>G
LRG_147t1:c.1039C>G
LRG_147p1:p.Gln347Glu

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays