NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) AND Myopathy, myofibrillar, 9, with early respiratory failure
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000260454.15
Allele description [Variation Report for NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)]
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
Condition(s)
- Name:
- Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
- Synonyms:
- EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689
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Presenilin-like protein [Phytophthora palmivora]
Presenilin-like protein [Phytophthora palmivora]gi|1338288351|gb|POM81535.1||gnl|WG W|PHPALM_479Protein
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presenilin-like protein [Nannochloropsis gaditana]
presenilin-like protein [Nannochloropsis gaditana]gi|585109786|gb|EWM27520.1||gnl|WGS |Naga_100101g18.9058Protein
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Presenilin-1 [Phytophthora nicotianae]
Presenilin-1 [Phytophthora nicotianae]gi|970634704|gb|KUF79834.1||gnl|WGS |AM587_10014682-t01Protein
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Similar Compounds for PubChem Compound (Select 129952641) (1226)
PubChem Compound
-
Same Parent, Connectivity for PubChem Compound (Select 21955499) (5)
PubChem Compound
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See more...Assertion and evidence details
Last Updated: Jul 7, 2024