NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) AND Dilated cardiomyopathy 1G
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986943.1
Allele description [Variation Report for NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)]
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)
Condition(s)
-
BioAssay by Target (List) for Gene (Select 9363) (13)
PubChem BioAssay
-
BioAssays, RNAi Target, Tested for Gene (Select 25906) (12)
PubChem BioAssay
-
txid2801129[Organism:noexp] (4)
Nucleotide
-
serine/threonine-protein kinase 17A isoform X1 [Homo sapiens]
serine/threonine-protein kinase 17A isoform X1 [Homo sapiens]gi|2462616783|ref|XP_054215301.1|Protein
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See more...Assertion and evidence details
Last Updated: Nov 5, 2022