NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001991800.6
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu)]
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu)
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
-
AGENCOURT_69615143 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:8318808 5', m...
AGENCOURT_69615143 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:8318808 5', mRNA sequencegi|88892195|gnl|dbEST|36949976|gb|D 88.1|Nucleotide
-
AL659014 XGC-neurula Xenopus tropicalis cDNA clone TNeu046m14 5', mRNA sequence
AL659014 XGC-neurula Xenopus tropicalis cDNA clone TNeu046m14 5', mRNA sequencegi|38226266|gnl|dbEST|20328726|emb| 014.2|Nucleotide
-
AL658369 XGC-neurula Xenopus tropicalis cDNA clone TNeu043j20 5', mRNA sequence
AL658369 XGC-neurula Xenopus tropicalis cDNA clone TNeu043j20 5', mRNA sequencegi|38225761|gnl|dbEST|20328221|emb| 369.2|Nucleotide
-
DC162834 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst106...
DC162834 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst106e19 3', mRNA sequencegi|119070530|gnl|dbEST|43340729|dbj 2834.1|Nucleotide
-
DC164074 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst111...
DC164074 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst111e19 3', mRNA sequencegi|119141975|gnl|dbEST|43406929|dbj 4074.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024