This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 15 HGVS names - click the plus to show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2 sample genotypes, is associated with 5 phenotypes and is mentioned in 2 citations.

Variant displays