NM_005546.4(ITK):c.1846G>T (p.Ala616Ser) AND Lymphoproliferative syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002972142.1
Allele description [Variation Report for NM_005546.4(ITK):c.1846G>T (p.Ala616Ser)]
NM_005546.4(ITK):c.1846G>T (p.Ala616Ser)
Condition(s)
-
Taxonomy Links for PopSet (Select 306810743) (1)
Taxonomy
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C4015513[trait identifier] AND "Molecular Genetics, Royal Melbour... (3)
C4015513[trait identifier] AND "Molecular Genetics, Royal Melbourne Hospital"[submitter]SearchClinVar
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C2697932[trait identifier] AND "Molecular Genetics, Royal Melbour... (3)
C2697932[trait identifier] AND "Molecular Genetics, Royal Melbourne Hospital"[submitter]SearchClinVar
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FYVE, RhoGEF and PH domain-containing protein 4 isoform X4 [Homo sapiens]
FYVE, RhoGEF and PH domain-containing protein 4 isoform X4 [Homo sapiens]gi|2217287450|ref|XP_047284252.1|Protein
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Taxonomy Links for BioSample (Select 8648424) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Feb 13, 2023