NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) AND Congenital myopathy 18
- Germline classification:
- Benign (1 submission)
- 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:
- RCV003458623.1
Allele description [Variation Report for NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile)]
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile)
Condition(s)
-
MULTISPECIES: stage 0 sporulation family protein [Bacillales]
MULTISPECIES: stage 0 sporulation family protein [Bacillales]gi|501984985|ref|WP_012683857.1|Protein
-
RecName: Full=Transcription elongation factor A protein-like 3; Short=TCEA-like ...
RecName: Full=Transcription elongation factor A protein-like 3; Short=TCEA-like protein 3; AltName: Full=Transcription elongation factor S-II protein-like 3gi|108935937|sp|Q8R0A5.2|TCAL3_MOUSProtein
-
maturin isoform a [Mus musculus]
maturin isoform a [Mus musculus]gi|576583435|ref|NP_001276669.1|Protein
-
LINC01414 long intergenic non-protein coding RNA 1414 [Homo sapiens]
LINC01414 long intergenic non-protein coding RNA 1414 [Homo sapiens]Gene ID:102724623Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024