This variation has been flagged

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

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
A/C/G/N/T | Ancestral: A | Ambiguity code: N | MAF: 0.21 (T)
Location

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

Co-located

with HGMD-PUBLIC CM971236

Most severe consequence
Evidence status

Clinical significance

This variation has 11 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

Variant allele T
7:g.95316772A>T
ENST00000470502.1:n.283T>A
ENST00000222381.4: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
ENST00000222381.4: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
ENST00000222381.4:c.163T>C
ENST00000433729.1:c.163T>C

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

Variation displays