NM_001042432.2(CLN3):c.222+17C>T AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003826859.2
Allele description [Variation Report for NM_001042432.2(CLN3):c.222+17C>T]
NM_001042432.2(CLN3):c.222+17C>T
Condition(s)
-
Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), ...
Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNAgi|526253093|ref|NM_031946.5|Nucleotide
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Rattus norvegicus LOC500651, mRNA (cDNA clone IMAGE:7378302), complete cds
Rattus norvegicus LOC500651, mRNA (cDNA clone IMAGE:7378302), complete cdsgi|71051137|gb|BC098829.1|Nucleotide
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Profile neighbors for GEO Profiles (Select 122991215) (199)
GEO Profiles
-
Tibial muscular dystrophy
Tibial muscular dystrophyAccession: GDS4843GEO DataSets
-
Related DataSets for GEO Profiles (Select 105438924) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024