NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001051003.4
Allele description [Variation Report for NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys)]
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys)
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
Assertion and evidence details
Last Updated: Jun 17, 2024