NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002542777.3
Allele description [Variation Report for NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)]
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
RING finger protein B isoform X2 [Glycine max]
RING finger protein B isoform X2 [Glycine max]gi|571534737|ref|XP_006600595.1|Protein
-
Ostreococcus tauri strain:RCC4221
Ostreococcus tauri strain:RCC4221Ostreococcus tauri genomeBioProject
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Last Updated: Sep 29, 2024