Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 4:6302247 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM011521

Most severe consequence
Evidence status

Clinical significance

Synonyms

Uniprot VAR_011314

This variation has 6 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2530 individual genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variation displays