NM_001130987.2(DYSF):c.5547-10C>T AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003735127.2
Allele description [Variation Report for NM_001130987.2(DYSF):c.5547-10C>T]
NM_001130987.2(DYSF):c.5547-10C>T
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
S41 family peptidase [Macrococcus brunensis]
S41 family peptidase [Macrococcus brunensis]gi|2197008336|gnl|PRJNA805071|MGG13 5|gb|ULG73312.1|Protein
-
peptidase S41 [[Clostridium] hylemonae]
peptidase S41 [[Clostridium] hylemonae]gi|2188809434|dbj|BDF03900.1|Protein
-
hypothetical protein BEN51_10635 [Clostridium isatidis]
hypothetical protein BEN51_10635 [Clostridium isatidis]gi|1239646111|gnl|PRJNA335982|BEN51 5|gb|ASW43922.1|Protein
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Last Updated: Sep 29, 2024