NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) AND multiple conditions
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000546920.12
Allele description [Variation Report for NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)]
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
- Identifiers:
- MONDO: MONDO:0013835; MedGen: C3553330; Orphanet: 899; OMIM: 614643
Assertion and evidence details
Last Updated: Oct 20, 2024