This variant has been flagged

  • Variation has more than 3 different alleles
  • Alleles contain ambiguity codes
Original source

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

Alleles
A/C/G/N/T|Ancestral: A|Ambiguity code: N|MAF: 0.18 (T)
Location

Chromosome 7:95316772 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971236

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 11 synonyms - Show

HGVS names

This variant has 18 HGVS names - Hide

Variant allele T
7:g.95316772A>T
ENST00000470502.1:n.283T>A
ENST00000222381.7:c.163T>A
ENSP00000222381.3:p.Leu55Met
ENST00000433729.1:c.163T>A
ENSP00000407359.1:p.Leu55Met

Variant allele C
7:g.95316772A>C
ENST00000470502.1:n.283T>G
ENST00000222381.7:c.163T>G
ENSP00000222381.3:p.Leu55Val
ENST00000433729.1:c.163T>G
ENSP00000407359.1:p.Leu55Val

Variant allele G
7:g.95316772A>G
ENST00000470502.1:n.283T>C
ENST00000222381.7:c.163T>C
ENST00000222381.7:c.163T>C(p.=)
ENST00000433729.1:c.163T>C
ENST00000433729.1:c.163T>C(p.=)

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 12 transcripts, has 2960 sample genotypes, is associated with 4 phenotypes and is mentioned in 64 citations.

Variant displays