Annotation

Position
chr12 : 98928072
Genotype
TGGA/T
Gene

HGVS DNA code
NM_001032283.2:c.565+2461_565+2463delGAG
HGVS protein code
OMIM-ID
Pubmed Links
MutationTaster

Author:
ClinVar  
Text:
The term `not specified` was created for use in ClinVar so that submitters can convey the concept that a variant is benign, likely benign, or of uncertain significance for an unspecified set of disorders. This usage was introduced in 2014 to replace AllHighlyPenetrant.
Created at August 08, 2015 14:15, Last update August 08, 2015 14:15
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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