NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003808401.1
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)]
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 1 (DEE1)
- Synonyms:
- INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
- Name:
- Autosomal dominant nonsyndromic hearing loss 65
- Synonyms:
- Deafness, autosomal dominant 65
- Identifiers:
- MONDO: MONDO:0014470; MedGen: C3892048; Orphanet: 90635; OMIM: 616044
- Name:
- Caused by mutation in the TBC1 domain family, member 24
- Identifiers:
- MedGen: CN236805
Assertion and evidence details
Last Updated: Mar 5, 2024