Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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
Missense variant
Evidence status

Clinical significance


LSDB 18260

This variant has 10 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts and is associated with 5 phenotypes.

Variant displays