Original source

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

T/C | Ancestral: T | Ambiguity code: Y

Chromosome 14:77278764 (forward strand) | View in location tab


with HGMD-PUBLIC CM074457 ; PhenCode POMT2:c.1997A>G (T/C)

Most severe consequence
Evidence status

Clinical significance


LSDB 18260

This variation has 9 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts and is associated with 4 phenotypes.

Variation displays