NM_001267550.2(TTN):c.13089C>T (p.Pro4363=) AND TTN-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004533904.2
Allele description [Variation Report for NM_001267550.2(TTN):c.13089C>T (p.Pro4363=)]
NM_001267550.2(TTN):c.13089C>T (p.Pro4363=)
Condition(s)
- Name:
- TTN-related disorder
- Synonyms:
- TTN-related condition; TTN-Related Disorders; TTN-related disease
- Identifiers:
-
Olfr631 AND (alive[prop]) (2)
Gene
-
aldo-keto reductase related protein 4 [Homo sapiens]
aldo-keto reductase related protein 4 [Homo sapiens]gi|27543531|dbj|BAC54568.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024