NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) AND Charcot-Marie-Tooth disease axonal type 2K
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000661961.4
Allele description [Variation Report for NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)]
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
Condition(s)
-
succinate dehydrogenase flavoprotein subunit [Azonexus sp.]
succinate dehydrogenase flavoprotein subunit [Azonexus sp.]gi|2810161733|ref|WP_375803808.1|Protein
-
Homo sapiens SUFU negative regulator of hedgehog signaling (SUFU), transcript va...
Homo sapiens SUFU negative regulator of hedgehog signaling (SUFU), transcript variant 1, mRNAgi|1779521774|ref|NM_016169.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024