NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000808564.7
Allele description [Variation Report for NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)]
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
NM_001107959 (14)
GEO Profiles
-
PREDICTED: Prunus mume uncharacterized protein ycf45 (LOC103326032), transcript ...
PREDICTED: Prunus mume uncharacterized protein ycf45 (LOC103326032), transcript variant X1, mRNAgi|1027096809|ref|XM_008228237.2|Nucleotide
-
small integral membrane protein 22 isoform 1 [Homo sapiens]
small integral membrane protein 22 isoform 1 [Homo sapiens]gi|359385721|ref|NP_001240719.1|Protein
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Phocoena sinus isolate mPhoSin1 chromosome 16, whole genome shotgun sequence
Phocoena sinus isolate mPhoSin1 chromosome 16, whole genome shotgun sequencegi|1750511482|gb|VOSU01000007.1||gn :VOSU01|scaffold_16_arrow_ctg1Nucleotide
-
Thermotoga petrophila partial estA gene for esterase, strain RKU1
Thermotoga petrophila partial estA gene for esterase, strain RKU1gi|77734460|emb|AM072722.1|Nucleotide
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Last Updated: Sep 29, 2024