Annotation

Position
chr7 : 148525888
Genotype
CCAT/C
Gene

HGVS DNA code
NM_004456.4:c.566_568delATG
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 14:13, Last update August 08, 2015 14:13
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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