Original source

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

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

Chromosome 14:77288777 (forward strand) | View in location tab


with HGMD-PUBLIC CM074454 ; PhenCode POMT2:c.1238G>C (C/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 2 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 1092 individual genotypes and is associated with 4 phenotypes.

Variation displays