NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001907409.4
Allele description [Variation Report for NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val)]
NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val)
Condition(s)
- Name:
- Pierson syndrome
- Synonyms:
- Microcoria and congenital nephrotic syndrome; MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
- Identifiers:
- MONDO: MONDO:0012184; MedGen: C1836876; Orphanet: 2670; OMIM: 609049
- Name:
- LAMB2-related infantile-onset nephrotic syndrome
- Synonyms:
- Nephrotic syndrome, type 5, with or without ocular abnormalities; NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES; NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
- Identifiers:
- MONDO: MONDO:0013621; MedGen: C3280113; Orphanet: 306507; OMIM: 614199
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Mus musculus major facilitator superfamily domain containing 4, mRNA (cDNA clone...
Mus musculus major facilitator superfamily domain containing 4, mRNA (cDNA clone MGC:67710 IMAGE:6395070), complete cdsgi|37590155|gb|BC058790.1|Nucleotide
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Last Updated: Sep 29, 2024