Original source

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

C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (G)

Chromosome 19:46755610 (forward strand) | View in location tab


with HGMD-PUBLIC CM040123 ; PhenCode FKRP:c.160C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 72 HGVS names - click the plus to show

Variation displays