NM_001267550.2(TTN):c.34612+1G>A AND Dilated cardiomyopathy 1A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001256858.3
Allele description [Variation Report for NM_001267550.2(TTN):c.34612+1G>A]
NM_001267550.2(TTN):c.34612+1G>A
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
-
CBWN1055.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8853122 5', mR...
CBWN1055.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8853122 5', mRNA sequencegi|133779943|gnl|dbEST|45209547|gb| 587.1|Nucleotide
-
JGI_CAAP13769.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7719854 5...
JGI_CAAP13769.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7719854 5', mRNA sequencegi|58797375|gnl|dbEST|27690767|gb|C 58.1|Nucleotide
-
Mus musculus sphingosine-1-phosphate phosphotase 2, mRNA (cDNA clone MGC:59240 I...
Mus musculus sphingosine-1-phosphate phosphotase 2, mRNA (cDNA clone MGC:59240 IMAGE:6399201), complete cdsgi|29436889|gb|BC049995.1|Nucleotide
-
PREDICTED: Rousettus aegyptiacus mediator of DNA damage checkpoint 1 (MDC1), tra...
PREDICTED: Rousettus aegyptiacus mediator of DNA damage checkpoint 1 (MDC1), transcript variant X5, mRNAgi|1910333169|ref|XM_036237980.1|Nucleotide
-
PREDICTED: Rousettus aegyptiacus synaptic Ras GTPase activating protein 1 (SYNGA...
PREDICTED: Rousettus aegyptiacus synaptic Ras GTPase activating protein 1 (SYNGAP1), transcript variant X12, mRNAgi|1910333643|ref|XM_036238859.1|Nucleotide
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Last Updated: Sep 29, 2024