Original source

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

C/A | Ancestral: C | Ambiguity code: M

Chromosome 19:46756276 (forward strand) | View in location tab


with HGMD-PUBLIC CM013805 ; PhenCode FKRP:c.826C>A (C/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

About this variant

This variant overlaps 24 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variation displays