Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|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 variant

HGMD-PUBLIC CM107202

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

6:g.111592059C>T
ENST00000532353.1:n.112-5779C>T
ENST00000392556.8:c.55G>A
ENSP00000376339.5:p.Asp19Asn
ENST00000368761.9:c.28G>A
ENSP00000357750.5:p.Asp10Asn
ENST00000359831.8:c.28G>A
ENSP00000352889.4:p.Asp10Asn
ENST00000528599.1:n.223G>A
ENST00000340026.10:c.55G>A
ENSP00000345984.6:p.Asp19Asn
ENST00000532708.5:n.254G>A

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2543 sample genotypes, is associated with 5 phenotypes and is mentioned in 16 citations.

Variant displays