NM_000251.3(MSH2):c.138C>G (p.His46Gln) AND MSH2-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004537290.2
Allele description [Variation Report for NM_000251.3(MSH2):c.138C>G (p.His46Gln)]
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
Condition(s)
- Name:
- MSH2-related disorder
- Identifiers:
-
Homo sapiens phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce hom...
Homo sapiens phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila), mRNA (cDNA clone MGC:132700 IMAGE:8144043), complete cdsgi|85397152|gb|BC105040.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5284784, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:5284784, containing frame-shift errorsgi|23243322|gb|BC036108.1|Nucleotide
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Last Updated: Oct 13, 2024