NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) AND Microcephaly 1, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808250.1
Allele description [Variation Report for NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile)]
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024