NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) AND Potassium-aggravated myotonia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000394071.8
Allele description [Variation Report for NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)]
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)
Condition(s)
-
PREDICTED: Mus musculus MIA SH3 domain ER export factor 2 (Mia2), transcript var...
PREDICTED: Mus musculus MIA SH3 domain ER export factor 2 (Mia2), transcript variant X5, mRNAgi|1720372410|ref|XM_030246786.1|Nucleotide
-
Mus musculus ubiquitin specific peptidase 49, mRNA (cDNA clone MGC:67320 IMAGE:6...
Mus musculus ubiquitin specific peptidase 49, mRNA (cDNA clone MGC:67320 IMAGE:6406180), complete cdsgi|38174227|gb|BC060712.1|Nucleotide
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Last Updated: Sep 16, 2024