NM_001128840.3(CACNA1D):c.5367C>G (p.His1789Gln) AND CACNA1D-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004531660.1
Allele description [Variation Report for NM_001128840.3(CACNA1D):c.5367C>G (p.His1789Gln)]
NM_001128840.3(CACNA1D):c.5367C>G (p.His1789Gln)
Condition(s)
- Name:
- CACNA1D-related disorder
- Identifiers:
-
COG5 [Geotrypetes seraphini]
COG5 [Geotrypetes seraphini]Gene ID:117366504Gene
-
HSD17B12 [Bubalus bubalis]
HSD17B12 [Bubalus bubalis]Gene ID:102395741Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024