NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) AND Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003447186.1
Allele description [Variation Report for NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)]
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)
Condition(s)
- Name:
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K
- Identifiers:
- MONDO: MONDO:0020558; MedGen: C1842984
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uncharacterized protein LOC102659422 [Glycine max]
uncharacterized protein LOC102659422 [Glycine max]gi|2027479445|ref|XP_014634177.3|Protein
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LEAF RUST 10 DISEASE-RESISTANCE LOCUS RECEPTOR-LIKE PROTEIN KINASE-like 1.4 isof...
LEAF RUST 10 DISEASE-RESISTANCE LOCUS RECEPTOR-LIKE PROTEIN KINASE-like 1.4 isoform X8 [Brassica rapa]gi|1827678821|ref|XP_033140239.1|Protein
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wall-associated receptor kinase 1 isoform X5 [Brassica rapa]
wall-associated receptor kinase 1 isoform X5 [Brassica rapa]gi|1827918371|ref|XP_033132882.1|Protein
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Putative methyltransferase family protein [Arabidopsis thaliana]
Putative methyltransferase family protein [Arabidopsis thaliana]gi|1063704989|ref|NP_001323440.1|Protein
-
pleiotropic drug resistance protein 1 isoform X3 [Medicago truncatula]
pleiotropic drug resistance protein 1 isoform X3 [Medicago truncatula]gi|1995146756|ref|XP_039683656.1|Protein
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Last Updated: Dec 17, 2023