NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000542284.4
Allele description [Variation Report for NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly)]
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly)
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
-
ALDH2 [Pantherophis guttatus]
ALDH2 [Pantherophis guttatus]Gene ID:117672251Gene
-
"385383-36-8"[CompleteSynonym] (1)
PubChem Compound
-
ENSPANP00000020596 (0)
Protein
-
Latimeria chalumnae isolate SAIAB 97564 contig219003, whole genome shotgun seque...
Latimeria chalumnae isolate SAIAB 97564 contig219003, whole genome shotgun sequencegi|345982659|gb|AFYH01219003.1||gnl AFYH01|contig219003Nucleotide
-
DC004460 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC004460 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone rxlk105g13ex 3', mRNA sequencegi|118964067|gnl|dbEST|43264595|dbj 4460.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024