Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 17:41055964 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930261

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 11 HGVS names - click the plus to show

17:g.41055964C>T
ENST00000585489.1:c.247C>T
ENSP00000466202.1:p.Arg83Cys
ENST00000588481.1:n.312C>T
ENST00000592383.1:c.247C>T
ENSP00000465958.1:p.Arg83Cys
ENST00000253801.2:c.247C>T
ENSP00000253801.1:p.Arg83Cys
LRG_147:g.8150C>T
LRG_147t1.1:c.247C>T
LRG_147p1.1:p.Arg83Cys

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad

Variation displays