Original source

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

HGMD-PUBLIC CM074087

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 17 HGVS names - Hide

10:g.71570884C>T
ENST00000616684.4:c.719C>T
ENSP00000482036.2:p.Pro240Leu
ENST00000398809.8:c.719C>T
ENSP00000381789.5:p.Pro240Leu
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
ENST00000224721.10:c.734C>T
ENSP00000224721.8:p.Pro245Leu
ENST00000461841.7:c.719C>T
ENSP00000473454.2:p.Pro240Leu
ENST00000299366.11:c.719C>T
ENSP00000299366.8:p.Pro240Leu

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

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

Variant displays