Annotation

Position
chr2 : 204062043
Genotype
C/T
Gene
NBEAL1

HGVS DNA code
NM_001114132.1:c.6970C>T
HGVS protein code
OMIM-ID
609816
Pubmed Links
Pubmed Article 24493721
MutationTaster

Author:
ClinVar  
Text:
-
Created at August 08, 2015 13:02, Last update August 08, 2015 13:02
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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