NM_152383.5(DIS3L2):c.128G>A (p.Arg43Gln) AND Perlman syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000638492.5
Allele description [Variation Report for NM_152383.5(DIS3L2):c.128G>A (p.Arg43Gln)]
NM_152383.5(DIS3L2):c.128G>A (p.Arg43Gln)
Condition(s)
-
Mus musculus, clone IMAGE:4166263, mRNA
Mus musculus, clone IMAGE:4166263, mRNAgi|25058450|gb|BC039948.1|Nucleotide
-
Homo sapiens signal-regulatory protein alpha, mRNA (cDNA clone MGC:43149 IMAGE:5...
Homo sapiens signal-regulatory protein alpha, mRNA (cDNA clone MGC:43149 IMAGE:5261789), complete cdsgi|34192914|gb|BC038510.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024