NM_030662.4(MAP2K2):c.1043A>G (p.Lys348Arg) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003655425.2
Allele description [Variation Report for NM_030662.4(MAP2K2):c.1043A>G (p.Lys348Arg)]
NM_030662.4(MAP2K2):c.1043A>G (p.Lys348Arg)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
SRX003158 (1)
SRA
-
RecName: Full=Endogenous retrovirus group K member 21 Rec protein; AltName: Full...
RecName: Full=Endogenous retrovirus group K member 21 Rec protein; AltName: Full=HERV-K_12q14.1 provirus Rec proteingi|47605975|sp|P61571.1|REC21_HUMANProtein
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Last Updated: Sep 29, 2024