Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 11:47234872 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960485

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9557

HGVS names

This variant has 16 HGVS names - Hide

11:g.47234872G>A
ENST00000617847.4:c.*460G>A
ENST00000256996.8:c.818G>A
ENSP00000256996.3:p.Arg273His
ENST00000616278.4:c.*85+200G>A
ENST00000614394.1:n.208G>A
ENST00000378603.7:c.626G>A
ENSP00000367866.3:p.Arg209His
ENST00000620515.1:n.46+200G>A
ENST00000612309.4:n.1932G>A
ENST00000378601.7:c.702+200G>A
ENST00000378600.7:c.457-2965G>A
ENST00000617022.4:n.1554-2965G>A
LRG_467:g.24931G>A
LRG_467t1:c.818G>A
LRG_467p1:p.Arg273His

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays