Original source

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

T/C/A | Ancestral: T | Ambiguity code: H | MAF: < 0.01 (C)

Chromosome 7:117531068 (forward strand) | View in location tab


with HGMD-PUBLIC CM962456, CM920145

Most severe consequence
Evidence status

Clinical significance


Uniprot VAR_000128

This variation has 10 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad, HumanCoreExome-12

About this variant

This variant overlaps 6 transcripts, has 1132 individual genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variation displays