Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 10:71570884 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM074087

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 17 HGVS names - click the plus to show

10:g.71570884C>T
ENST00000616684.4:c.854C>T
ENSP00000482036.1:p.Pro285Leu
ENST00000622827.4:c.719C>T
ENSP00000483211.1:p.Pro240Leu
ENST00000466757.7:c.90C>T
ENSP00000473539.1:p.Pro31Leu
ENST00000398842.7:c.470C>T
ENSP00000381822.4:p.Pro157Leu
ENST00000299366.11:c.854C>T
ENSP00000299366.7:p.Pro285Leu
ENST00000398809.8:c.719C>T
ENSP00000381789.5:p.Pro240Leu
ENST00000461841.7:c.854C>T
ENSP00000473454.1:p.Pro285Leu
ENST00000224721.10:c.869C>T
ENSP00000224721.7:p.Pro290Leu

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays