NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001868506.4
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu)]
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu)
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
-
cyclically-permuted mutatrotase family protein [Brachyspira murdochii DSM 12563]
cyclically-permuted mutatrotase family protein [Brachyspira murdochii DSM 12563]gi|296019300|gnl|jgi|Bmur_2467|gb|A 37.1|Protein
-
Postcrash and Arrest Interventions - Getting to Zero Alcohol-Impaired Driving Fa...
Postcrash and Arrest Interventions - Getting to Zero Alcohol-Impaired Driving Fatalities
-
KIRREL3 [Gymnogyps californianus]
KIRREL3 [Gymnogyps californianus]Gene ID:127025904Gene
-
Efficacy of antiseptic-impregnated central venous catheters in preventing cathet...
Efficacy of antiseptic-impregnated central venous catheters in preventing catheter-related bloodstream infection: a meta-analysis - Database of Abstracts of Reviews of Effects (DARE): Quality-assessed Reviews
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024