Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 11:112094923 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM083558

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11395

This variant has 14 HGVS names - click the plus to show

11:g.112094923C>A
ENST00000532699.1:c.314+5912C>A
ENST00000528182.5:c.*30C>A
ENST00000525987.5:n.319+5912C>A
ENST00000534010.1:c.145+5912C>A
ENST00000526592.5:c.*131C>A
ENST00000375549.7:c.433C>A
ENSP00000364699.3:p.His145Asn
ENST00000525291.5:c.316C>A
ENSP00000436669.1:p.His106Asn
ENST00000528021.5:c.314+5912C>A
ENST00000531744.5:c.314+5912C>A
ENST00000530923.5:c.*172C>A
ENST00000528048.5:c.*30C>A

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variant displays