NM_000069.3(CACNA1S):c.3527G>A (p.Gly1176Asp) AND Malignant hyperthermia, susceptibility to, 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004015714.2
Allele description [Variation Report for NM_000069.3(CACNA1S):c.3527G>A (p.Gly1176Asp)]
NM_000069.3(CACNA1S):c.3527G>A (p.Gly1176Asp)
Condition(s)
-
CCR4-NOT transcription complex subunit 6 isoform 2 [Mus musculus]
CCR4-NOT transcription complex subunit 6 isoform 2 [Mus musculus]gi|47059015|ref|NP_997649.1|Protein
-
Homo sapiens CCR4-NOT transcription complex, subunit 6, mRNA (cDNA clone IMAGE:4...
Homo sapiens CCR4-NOT transcription complex, subunit 6, mRNA (cDNA clone IMAGE:4414956)gi|15929823|gb|BC015331.1|Nucleotide
-
Mus musculus Rap guanine nucleotide exchange factor (GEF) 6, mRNA (cDNA clone IM...
Mus musculus Rap guanine nucleotide exchange factor (GEF) 6, mRNA (cDNA clone IMAGE:3992716), partial cdsgi|18044312|gb|BC019702.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024