Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 11:64759751 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930629

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

11:g.64759751G>A
ENST00000164139.3:c.148C>T
ENSP00000164139.3:p.Arg50Ter
ENST00000377432.7:c.148C>T
ENSP00000366650.3:p.Arg50Ter

Genotyping chips

This variant has assays on: Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays