NM_005559.4(LAMA1):c.2986del (p.Thr996fs) AND Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 7, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000133606.3
Allele description [Variation Report for NM_005559.4(LAMA1):c.2986del (p.Thr996fs)]
NM_005559.4(LAMA1):c.2986del (p.Thr996fs)
Condition(s)
Assertion and evidence details
Last Updated: Nov 19, 2022