NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) AND LAMA2-related muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000542768.8
Allele description
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
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CMRF35-like molecule 8 isoform 4 precursor [Homo sapiens]
CMRF35-like molecule 8 isoform 4 precursor [Homo sapiens]gi|1060099126|ref|NP_001317386.1|Protein
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RecName: Full=CMRF35-like molecule 8; Short=CLM-8; AltName: Full=CD300 antigen-l...
RecName: Full=CMRF35-like molecule 8; Short=CLM-8; AltName: Full=CD300 antigen-like family member A; AltName: Full=CMRF-35-H9; Short=CMRF35-H9; AltName: Full=CMRF35-H; AltName: Full=IRC1/IRC2; AltName: Full=Immunoglobulin superfamily member 12; Short=IgSF12; AltName: Full=Inhibitory receptor protein 60; Short=IRp60; AltName: Full=NK inhibitory receptor; AltName: CD_antigen=CD300a; Flags: Precursorgi|126302534|sp|Q9UGN4.2|CLM8_HUMANProtein
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Coloboma, ocular, autosomal recessive
Coloboma, ocular, autosomal recessiveMedGen
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024