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
-
PREDICTED: Vitis vinifera putative disease resistance RPP13-like protein 1 (LOC1...
PREDICTED: Vitis vinifera putative disease resistance RPP13-like protein 1 (LOC100242853), transcript variant X11, mRNAgi|2581553818|ref|XM_010659516.3|Nucleotide
-
JGI_CAAJ13205.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7643247 5...
JGI_CAAJ13205.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7643247 5', mRNA sequencegi|58352934|gnl|dbEST|27490522|gb|C 05.1|Nucleotide
-
LOC101926886 [Homo sapiens]
LOC101926886 [Homo sapiens]Gene ID:101926886Gene
-
LOC113424261 [Notechis scutatus]
LOC113424261 [Notechis scutatus]Gene ID:113424261Gene
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Last Updated: Sep 29, 2024