Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.08 (T)
Location

Chromosome 6:111592059 (forward strand) | View in location tab

Co-located

with COSMIC COSM3736398 (C/T) ; HGMD-PUBLIC CM107202

Most severe consequence
Evidence status

Clinical significance

Synonyms

Uniprot VAR_047349

This variation has 12 HGVS names - click the plus to show

6:g.111592059C>T
ENST00000532353.1:n.112-5779C>T
ENST00000392556.7:c.55G>A
ENSP00000376339.5:p.Asp19Asn
ENST00000368761.8:c.28G>A
ENSP00000357750.5:p.Asp10Asn
ENST00000359831.7:c.28G>A
ENSP00000352889.4:p.Asp10Asn
ENST00000528599.1:n.223G>A
ENST00000532708.4:n.254G>A
ENST00000340026.9:c.55G>A
ENSP00000345984.6:p.Asp19Asn

This variation has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 10 transcripts, has 2506 individual genotypes, is associated with 5 phenotypes and is mentioned in 14 citations.

Variation displays