NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) AND Dilated cardiomyopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001256964.2
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)]
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
Condition(s)
- Name:
- Dilated cardiomyopathy 1A (CMD1A)
- Synonyms:
- CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200
-
LOC105375443 [Homo sapiens]
LOC105375443 [Homo sapiens]Gene ID:105375443Gene
-
FDBC8-1 DNA segment, FDBC8-1 [Mus musculus]
FDBC8-1 DNA segment, FDBC8-1 [Mus musculus]Gene ID:53099Gene
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See more...Assertion and evidence details
Last Updated: Jun 24, 2023