NM_005502.4(ABCA1):c.1510-2A>C AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003679530.2
Allele description [Variation Report for NM_005502.4(ABCA1):c.1510-2A>C]
NM_005502.4(ABCA1):c.1510-2A>C
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens variable charge, X-linked 2, mRNA (cDNA clone MGC:149340 IMAGE:4011...
Homo sapiens variable charge, X-linked 2, mRNA (cDNA clone MGC:149340 IMAGE:40114437), complete cdsgi|126632180|gb|BC134350.1|Nucleotide
-
BioProject Links for GEO DataSets (Select 161) (0)
BioProject
-
tuberin isoform 19 [Homo sapiens]
tuberin isoform 19 [Homo sapiens]gi|2240436663|ref|NP_001393600.1|Protein
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Last Updated: Sep 29, 2024