NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly) AND Cobblestone lissencephaly without muscular or ocular involvement
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000680163.2
Allele description [Variation Report for NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)]
NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)
Condition(s)
-
KIF5A kinesin family member 5A [Bos taurus]
KIF5A kinesin family member 5A [Bos taurus]Gene ID:511273Gene
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Last Updated: Jun 17, 2023