Annotation

Position
chr11 : 111959675
Genotype
A/T
Gene
SDHD   (Entrez-ID: 6392)

HGVS DNA code
NM_003002.2.c.254T>A
HGVS protein code
NP_002993.1.p.L85X
Link
OMIM-ID
602690
Pubmed Links
Pubmed Article 16314641
MutationTaster

Author:
GeneTalk
Text:
Paraganglioma and phaeochromocytoma
Created at December 01, 2011 04:07, Last update December 01, 2011 04:07
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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