NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001343021.7
Allele description [Variation Report for NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)]
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
pre-mRNA-splicing factor prp12 [Solanum lycopersicum]
pre-mRNA-splicing factor prp12 [Solanum lycopersicum]gi|723738605|ref|XP_010312155.1|Protein
-
NAC domain-containing protein 100 [Brassica rapa]
NAC domain-containing protein 100 [Brassica rapa]gi|1827687764|ref|XP_009136471.2|Protein
-
NAC domain-containing protein 91 isoform X3 [Brassica rapa]
NAC domain-containing protein 91 isoform X3 [Brassica rapa]gi|1827889794|ref|XP_033128726.1|Protein
-
aquaporin NIP1-1 [Oryza sativa Japonica Group]
aquaporin NIP1-1 [Oryza sativa Japonica Group]gi|2277251069|ref|NP_001396806.1|Protein
-
XBAT32 uncharacterized protein [Arabidopsis thaliana]
XBAT32 uncharacterized protein [Arabidopsis thaliana]Gene ID:835882Gene
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Last Updated: Oct 13, 2024