NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro) AND Myopathy, myosin storage, autosomal recessive
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003456316.1
Allele description [Variation Report for NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)]
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
Condition(s)
-
Gene Links for GEO Profiles (Select 87933500) (1)
Gene
-
C1QTNF2 C1q and TNF related 2 [Homo sapiens]
C1QTNF2 C1q and TNF related 2 [Homo sapiens]Gene ID:114898Gene
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023