NM_015447.4(CAMSAP1):c.1709C>G (p.Thr570Arg) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004434684.1
Allele description [Variation Report for NM_015447.4(CAMSAP1):c.1709C>G (p.Thr570Arg)]
NM_015447.4(CAMSAP1):c.1709C>G (p.Thr570Arg)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens gap junction protein, beta 5, 31.1kDa, mRNA (cDNA clone MGC:10657 I...
Homo sapiens gap junction protein, beta 5, 31.1kDa, mRNA (cDNA clone MGC:10657 IMAGE:3639452), complete cdsgi|13325131|gb|BC004379.1|Nucleotide
-
Homo sapiens C-C motif chemokine ligand 18 (CCL18), mRNA
Homo sapiens C-C motif chemokine ligand 18 (CCL18), mRNAgi|1653960989|ref|NM_002988.4|Nucleotide
-
PREDICTED: Homo sapiens prospero homeobox 1 (PROX1), transcript variant X8, mRNA
PREDICTED: Homo sapiens prospero homeobox 1 (PROX1), transcript variant X8, mRNAgi|2217269273|ref|XM_047425572.1|Nucleotide
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Last Updated: May 7, 2024