Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 7:117540132 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990360

Most severe consequence
Evidence status

Synonyms

Uniprot VAR_000142

This variation has 5 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts and is associated with 1 phenotype.

Variation displays