NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) AND Malignant hyperthermia, susceptibility to, 5
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003449822.3
Allele description [Variation Report for NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp)]
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp)
Condition(s)
-
Homo sapiens chromosome 20 open reading frame 30, mRNA (cDNA clone MGC:13347 IMA...
Homo sapiens chromosome 20 open reading frame 30, mRNA (cDNA clone MGC:13347 IMAGE:4092724), complete cdsgi|14602516|gb|BC009768.1|Nucleotide
-
palmitoyltransferase ZDHHC14 isoform X1 [Homo sapiens]
palmitoyltransferase ZDHHC14 isoform X1 [Homo sapiens]gi|1034651667|ref|XP_016866797.1|Protein
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Last Updated: Jul 29, 2024