NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003539436.1
Allele description [Variation Report for NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)]
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
WARS1 tryptophanyl-tRNA synthetase 1 [Homo sapiens]
WARS1 tryptophanyl-tRNA synthetase 1 [Homo sapiens]Gene ID:7453Gene
-
Akr1c12l1 aldo-keto reductase family 1, member C12-like 1 [Rattus norvegicus]
Akr1c12l1 aldo-keto reductase family 1, member C12-like 1 [Rattus norvegicus]Gene ID:498790Gene
-
Gene Links for Nucleotide (Select 209364584) (1)
Gene
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Last Updated: May 1, 2024