Annotation

Position
chr12 : 98927506
Genotype
T/G
Gene

HGVS DNA code
NM_001032283.2:c.565+1890T>G
HGVS protein code
OMIM-ID
Pubmed Links
MutationTaster

Author:
ClinVar  
Text:
The term `not provided` is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. `not provided` differs from `not specified`, which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified.
Created at August 08, 2015 14:56, Last update August 08, 2015 14:56
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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