NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003224455.2
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)]
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)
Condition(s)
- Name:
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Synonyms:
- RE-PED-WC; Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
- Identifiers:
- MONDO: MONDO:0011970; MedGen: C1842531; Orphanet: 163727; OMIM: 608105
- Name:
- DOORS syndrome (DOORS)
- Synonyms:
- Deafness onychodystrophy osteodystrophy and mental retardation syndrome; DRC SYNDROME; BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009079; MedGen: C0795934; Orphanet: 3231; Orphanet: 79500; OMIM: 220500
- Name:
- Familial infantile myoclonic epilepsy (FIME)
- Synonyms:
- Epilepsy, Myoclonic, Infantile
- Identifiers:
- MONDO: MONDO:0011506; MedGen: C0917800; Orphanet: 352582; OMIM: 605021
- Name:
- Autosomal recessive nonsyndromic hearing loss 86
- Synonyms:
- Deafness, autosomal recessive 86
- Identifiers:
- MONDO: MONDO:0013826; MedGen: C2829265; Orphanet: 90636; OMIM: 614617
Assertion and evidence details
Last Updated: Oct 8, 2024