NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) AND Porencephaly 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000344668.5
Allele description [Variation Report for NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=)]
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=)
Condition(s)
-
Homo sapiens neurturin (NRTN), mRNA
Homo sapiens neurturin (NRTN), mRNAgi|183979983|ref|NM_004558.3|Nucleotide
-
MICU2 (0)
MedGen
-
glutamate receptor, ionotropic, kainate 4, isoform CRA_a, partial [Mus musculus]
glutamate receptor, ionotropic, kainate 4, isoform CRA_a, partial [Mus musculus]gi|148693596|gb|EDL25543.1||gnl|WGS |mCP104147Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024