Original source

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

T/C/G | Ancestral: T | Ambiguity code: B

Chromosome 11:5225659 (forward strand) | View in location tab


with HGMD-PUBLIC CM950620, CM930382 ; PhenCode HbVar.524 (T/C), HbVar.959 (T/G), HbVar.960 (T/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 11 transcripts, has 2 individual genotypes, is associated with 5 phenotypes and is mentioned in 2 citations.

Variation displays