NM_005546.4(ITK):c.1510A>T (p.Thr504Ser) AND Lymphoproliferative syndrome 1
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000650364.15
Allele description [Variation Report for NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)]
NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)
Condition(s)
-
RecT-like ssDNA annealing protein [Salmonella phage epsilon15]
RecT-like ssDNA annealing protein [Salmonella phage epsilon15]gi|1368578807|ref|NP_848242.2|Protein
-
PREDICTED: ATP-binding cassette sub-family D member 2 [Poecilia reticulata]
PREDICTED: ATP-binding cassette sub-family D member 2 [Poecilia reticulata]gi|658919312|ref|XP_008399401.1|Protein
-
PREDICTED: Oryzias latipes phospholipase A2 group XV (pla2g15), mRNA
PREDICTED: Oryzias latipes phospholipase A2 group XV (pla2g15), mRNAgi|1343953924|ref|XM_004069738.4|Nucleotide
-
PREDICTED: Cavia porcellus seryl-tRNA synthetase 2, mitochondrial (Sars2), trans...
PREDICTED: Cavia porcellus seryl-tRNA synthetase 2, mitochondrial (Sars2), transcript variant X1, mRNAgi|2687673929|ref|XM_003467157.5|Nucleotide
-
transcription activator BRG1 isoform X3 [Alligator mississippiensis]
transcription activator BRG1 isoform X3 [Alligator mississippiensis]gi|951030349|ref|XP_006265632.2|Protein
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Last Updated: Aug 4, 2024