Annotation

Position
chr1 : 197113073
Genotype
G/A
Gene

HGVS DNA code
NM_018136.4:c.441+14C>T
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 14:43, Last update August 08, 2015 14:43
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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