Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variants

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 18260

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 11 transcripts and is associated with 5 phenotypes.

Variant displays