NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) AND Thyrotoxic periodic paralysis, susceptibility to, 1
- Germline classification:
- Likely 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:
- RCV003454923.1
Allele description [Variation Report for NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=)]
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=)
Condition(s)
-
PREDICTED: Homo sapiens FA complementation group I (FANCI), transcript variant X...
PREDICTED: Homo sapiens FA complementation group I (FANCI), transcript variant X38, mRNAgi|2217301988|ref|XM_047432824.1|Nucleotide
-
Fanconi anemia group I protein isoform X1 [Homo sapiens]
Fanconi anemia group I protein isoform X1 [Homo sapiens]gi|2462544992|ref|XP_054234347.1|Protein
-
PREDICTED: Homo sapiens FA complementation group I (FANCI), transcript variant X...
PREDICTED: Homo sapiens FA complementation group I (FANCI), transcript variant X5, mRNAgi|2462544993|ref|XM_054378373.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024