Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.10 (A)
Location

Chromosome 10:13298236 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001290

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

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

10:g.13298236G>A
ENST00000463730.1:n.140C>T
ENST00000396913.6:c.-167+1184C>T
ENST00000453759.6:c.-216C>T
ENST00000396920.7:c.28C>T
ENSP00000380126.3:p.Pro10Ser
ENST00000263038.8:c.85C>T
ENSP00000263038.4:p.Pro29Ser
ENST00000479604.1:c.85C>T
ENSP00000420117.1:p.Pro29Ser

This variant has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 7 transcripts, has 2506 sample genotypes and is associated with 3 phenotypes.

Variant displays