Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 13:102852244 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM016232

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1784

HGVS names

This variant has 28 HGVS names - Hide

Variant allele A
13:g.102852244C>A
ENST00000602836.1:c.1491C>A
ENSP00000473384.1:p.Pro498His
ENST00000355739.8:c.215C>A
ENSP00000347978.4:p.Pro72His
ENST00000535557.5:c.215C>A
ENSP00000442117.1:p.Pro72His
ENST00000472151.1:c.*120C>A
ENST00000610537.4:c.215C>A
ENSP00000478667.1:p.Pro72His
ENST00000375958.3:n.370C>A
LRG_464:g.11421C>A
LRG_464t1:c.215C>A
LRG_464p1:p.Pro72His

Variant allele T
13:g.102852244C>T
ENST00000602836.1:c.1491C>T
ENSP00000473384.1:p.Pro498Leu
ENST00000355739.8:c.215C>T
ENSP00000347978.4:p.Pro72Leu
ENST00000535557.5:c.215C>T
ENSP00000442117.1:p.Pro72Leu
ENST00000472151.1:c.*120C>T
ENST00000610537.4:c.215C>T
ENSP00000478667.1:p.Pro72Leu
ENST00000375958.3:n.370C>T
LRG_464:g.11421C>T
LRG_464t1:c.215C>T
LRG_464p1:p.Pro72Leu

About this variant

This variant overlaps 14 transcripts and is associated with 2 phenotypes.

Variant displays