NM_001130987.2(DYSF):c.239+17G>T AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003859984.2
Allele description [Variation Report for NM_001130987.2(DYSF):c.239+17G>T]
NM_001130987.2(DYSF):c.239+17G>T
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
protein kinase C iota, partial [Raphicerus melanotis]
protein kinase C iota, partial [Raphicerus melanotis]gi|14572757|gb|AAK67779.1|Protein
-
Entamoebidae sp. isolate ZOTU3104 18S ribosomal RNA gene, partial sequence
Entamoebidae sp. isolate ZOTU3104 18S ribosomal RNA gene, partial sequencegi|1594499408|gb|MH623070.1|Nucleotide
-
Taxonomy Links for GEO Profiles (Select 111836210) (1)
Taxonomy
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024