NM_145207.3(AFG2A):c.1820del (p.Asn607fs) AND Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000806467.2
Allele description [Variation Report for NM_145207.3(AFG2A):c.1820del (p.Asn607fs)]
NM_145207.3(AFG2A):c.1820del (p.Asn607fs)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023