NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) AND Seckel syndrome 5
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000381261.6
Allele description [Variation Report for NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)]
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)
Condition(s)
-
Homo sapiens protein tyrosine phosphatase 4A1 (PTP4A1), transcript variant 7, mR...
Homo sapiens protein tyrosine phosphatase 4A1 (PTP4A1), transcript variant 7, mRNAgi|1869284246|ref|NM_001385259.1|Nucleotide
-
Homo sapiens protein tyrosine phosphatase 4A1 (PTP4A1), transcript variant 11, m...
Homo sapiens protein tyrosine phosphatase 4A1 (PTP4A1), transcript variant 11, mRNAgi|1869903014|ref|NM_001385265.1|Nucleotide
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Last Updated: Sep 8, 2024