Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 11:64757826 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930630

Most severe consequence
 
Missense variant
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.64757826C>T
ENST00000164139.3:c.613G>A
ENSP00000164139.3:p.Gly205Ser
ENST00000377432.7:c.349G>A
ENSP00000366650.3:p.Gly117Ser

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

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

Variant displays