NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001093024.20
Allele description [Variation Report for NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp)]
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
HMMR [Pterocles gutturalis]
HMMR [Pterocles gutturalis]Gene ID:104459744Gene
-
TLCD4 TLC domain containing 4 [Homo sapiens]
TLCD4 TLC domain containing 4 [Homo sapiens]Gene ID:148534Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024