Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP


Chromosome 11: between 5225720 and 5225721 (forward strand)|View in location tab

Co-located variant

PhenCode HbVar.945 (-/C)

Most severe consequence
Frameshift variant
Evidence status


LSDB HbVar.945

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays