NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001186475.4
Allele description [Variation Report for NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)]
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
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Mus musculus carbohydrate sulfotransferase 11 (Chst11), transcript variant 2, mR...
Mus musculus carbohydrate sulfotransferase 11 (Chst11), transcript variant 2, mRNAgi|2717371459|ref|NM_021439.4|Nucleotide
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PREDICTED: Jaculus jaculus von Willebrand factor (Vwf), mRNA
PREDICTED: Jaculus jaculus von Willebrand factor (Vwf), mRNAgi|2147823836|ref|XM_045139643.1|Nucleotide
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aa65e04.r1 NCI_CGAP_GCB1 Homo sapiens cDNA clone IMAGE:825822 5', mRNA sequence
aa65e04.r1 NCI_CGAP_GCB1 Homo sapiens cDNA clone IMAGE:825822 5', mRNA sequencegi|2220543|gnl|dbEST|1135611|gb|AA4 .1|Nucleotide
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pGEX-6P-2 cloning vector, complete sequence
pGEX-6P-2 cloning vector, complete sequencegi|1699064|gb|U78873.1|CVU78873Nucleotide
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Last Updated: Sep 29, 2024