Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 14:20476432 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920510 ; PhenCode NPbase_D0064:g.8023G>C (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4320, 2010_April_001_036_NP_164050_0004

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

14:g.20476432G>C
ENST00000554678.1:n.186+472C>G
ENST00000556754.1:n.1918G>C
ENST00000361505.9:c.701G>C
ENSP00000354532.5:p.Arg234Pro
ENST00000554056.5:n.1009G>C
LRG_91:g.12050G>C
LRG_91t1:c.701G>C
LRG_91p1:p.Arg234Pro

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays