NM_000337.6(SGCD):c.144G>C (p.Val48=) AND Dilated cardiomyopathy 1L
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003233108.1
Allele description [Variation Report for NM_000337.6(SGCD):c.144G>C (p.Val48=)]
NM_000337.6(SGCD):c.144G>C (p.Val48=)
Condition(s)
-
phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1 [Homo sapien...
phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1 [Homo sapiens]gi|767931292|ref|XP_011530003.1|Protein
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Last Updated: Oct 13, 2024