NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg) AND Schinzel-Giedion syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002510727.2
Allele description [Variation Report for NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)]
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
Condition(s)
-
PREDICTED: Homo sapiens CD2 associated protein (CD2AP), transcript variant X1, m...
PREDICTED: Homo sapiens CD2 associated protein (CD2AP), transcript variant X1, mRNAgi|2462607520|ref|XM_054354982.1|Nucleotide
-
CD2-associated protein isoform X2 [Homo sapiens]
CD2-associated protein isoform X2 [Homo sapiens]gi|2462607523|ref|XP_054210958.1|Protein
-
Homo sapiens CD2 associated protein (CD2AP), mRNA
Homo sapiens CD2 associated protein (CD2AP), mRNAgi|1519242958|ref|NM_012120.3|Nucleotide
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Last Updated: Apr 6, 2024