NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) AND Myopathy, myosin storage, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147422.8
Allele description [Variation Report for NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)]
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)
Condition(s)
-
PREDICTED: Homo sapiens BCL6 transcription repressor (BCL6), transcript variant ...
PREDICTED: Homo sapiens BCL6 transcription repressor (BCL6), transcript variant X3, mRNAgi|2217345322|ref|XM_011513062.4|Nucleotide
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Last Updated: Sep 8, 2024