NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001041353.8
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)]
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)
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
-
Gm22337 AND (alive[prop]) (2)
Gene
-
Enterovesical Fistula - StatPearls
Enterovesical Fistula - StatPearls
-
GLIP4 GDSL-motif lipase 4 [Arabidopsis thaliana]
GLIP4 GDSL-motif lipase 4 [Arabidopsis thaliana]Gene ID:820641Gene
-
CYP707A3 cytochrome P450, family 707, subfamily A, polypeptide 3 [Arabidopsis th...
CYP707A3 cytochrome P450, family 707, subfamily A, polypeptide 3 [Arabidopsis thaliana]Gene ID:834570Gene
-
ybhC outer membrane lipoprotein YbhC [Escherichia coli str. K-12 substr. MG1655]
ybhC outer membrane lipoprotein YbhC [Escherichia coli str. K-12 substr. MG1655]Gene ID:945381Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024