Annotation

Position
chr4 : 159627997
Genotype
C/T
Gene
ETFDH   (Entrez-ID: 2110)

HGVS DNA code
NM_004453.2.c.1685C>T
HGVS protein code
NP_004444.2.p.P562L
Link
OMIM-ID
231675
Pubmed Links
Pubmed Article 12359134
MutationTaster

Author:
GeneTalk
Text:
Glutaricacidaemia 2c
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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