This variation has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

Chromosome 11:5225678 (forward strand) | View in location tab


with HGMD-PUBLIC CM930381, CM900124, CM860012 ; PhenCode HbVar.509 (C/G), HbVar.510 (C/T), HbVar.951 (C/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 8 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 16 transcripts, is associated with 13 phenotypes and is mentioned in 22 citations.

Variation displays