NM_001014987.2(LAT):c.399-9T>A AND Severe combined immunodeficiency due to LAT deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001730765.2
Allele description [Variation Report for NM_001014987.2(LAT):c.399-9T>A]
NM_001014987.2(LAT):c.399-9T>A
Condition(s)
-
acyl-CoA synthetase family member 3, mitochondrial isoform 2 [Rattus norvegicus]
acyl-CoA synthetase family member 3, mitochondrial isoform 2 [Rattus norvegicus]gi|2777216929|ref|NP_001418880.1|Protein
-
Niphanda fusca voucher MCZ:YJ-02-Q710 putative RNA polymerase II transcriptional...
Niphanda fusca voucher MCZ:YJ-02-Q710 putative RNA polymerase II transcriptional coactivator gene, partial cdsgi|2570880688|gb|OL268763.1|Nucleotide
-
Homo sapiens family with sequence similarity 110 member A (FAM110A), transcript ...
Homo sapiens family with sequence similarity 110 member A (FAM110A), transcript variant 5, mRNAgi|1676439827|ref|NM_001289146.2|Nucleotide
-
Chain A, cAMP-dependent protein kinase catalytic subunit alpha
Chain A, cAMP-dependent protein kinase catalytic subunit alphagi|2177197120|pdb|7BAR|AProtein
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Last Updated: Sep 29, 2024