Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

11:g.64759751G>A
ENST00000164139.3:c.148C>T
ENSP00000164139.3:p.Arg50Ter
ENST00000377432.5:c.148C>T
ENSP00000366650.3:p.Arg50Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_ImmunoChip

Variation displays