NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001377313.5
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)]
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)
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
-
bll6765 [Bradyrhizobium diazoefficiens USDA 110]
bll6765 [Bradyrhizobium diazoefficiens USDA 110]gi|27355045|dbj|BAC52030.1|Protein
-
N-acetylmuramidase [Xanthomonas citri pv. citri]
N-acetylmuramidase [Xanthomonas citri pv. citri]gi|2075425781|gnl|BCGABRC|HZS92_017 |QYF39658.1|Protein
-
BIZ78_gp112 [Erwinia phage vB_EamM_Caitlin]
BIZ78_gp112 [Erwinia phage vB_EamM_Caitlin]Gene ID:29068754Gene
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Last Updated: Sep 29, 2024