NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val) AND Autosomal recessive limb-girdle muscular dystrophy type 2B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830253.1
Allele description [Variation Report for NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val)]
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val)
Condition(s)
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Thenea schmidtii]
cytochrome c oxidase subunit I, partial (mitochondrion) [Thenea schmidtii]gi|2432454172|gb|WCD39150.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024