NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) AND Microcephaly 1, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002478363.1
Allele description [Variation Report for NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys)]
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys)
Condition(s)
-
Pseudochaenichthys georgianus genome assembly, chromosome: 14
Pseudochaenichthys georgianus genome assembly, chromosome: 14gi|1829791480|emb|LR792559.1|Nucleotide
-
ERP000698 (2)
SRA
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Last Updated: Sep 29, 2024