Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K | MAF: < 0.01 (T)
Location

Chromosome 11:47448079 (forward strand) | View in location tab

Co-located

with COSMIC COSM3765567 (G/T) ; HGMD-PUBLIC CM020758

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

11:g.47448079G>T
ENST00000352508.7:c.264C>A
ENSP00000298853.3:p.Asn88Lys
ENST00000298854.6:c.264C>A
ENSP00000298854.2:p.Asn88Lys
ENST00000529341.1:c.264C>A
ENSP00000431732.1:p.Asn88Lys
ENST00000524487.5:c.264C>A
ENSP00000435551.2:p.Asn88Lys

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays