NM_030662.4(MAP2K2):c.794_824del (p.Tyr265fs) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003044425.2
Allele description [Variation Report for NM_030662.4(MAP2K2):c.794_824del (p.Tyr265fs)]
NM_030662.4(MAP2K2):c.794_824del (p.Tyr265fs)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
Synthetic construct Homo sapiens clone IMAGE:100015375, MGC:183010 sperm associa...
Synthetic construct Homo sapiens clone IMAGE:100015375, MGC:183010 sperm associated antigen 17 (SPAG17) mRNA, encodes complete proteingi|225356467|gb|BC148427.1|Nucleotide
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Last Updated: Feb 20, 2024