NM_030662.4(MAP2K2):c.207C>T (p.Asp69=) AND RASopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000552205.9
Allele description [Variation Report for NM_030662.4(MAP2K2):c.207C>T (p.Asp69=)]
NM_030662.4(MAP2K2):c.207C>T (p.Asp69=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
Chromosome neighbors for GEO Profiles (Select 108535038) (18)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 132166912) (20)
GEO Profiles
-
CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X [Homo sapie...
CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X [Homo sapiens]Gene ID:10845Gene
-
Gene Links for GEO Profiles (Select 132149232) (1)
Gene
-
HSP90AA4P heat shock protein 90 alpha family class A member 4, pseudogene [Homo ...
HSP90AA4P heat shock protein 90 alpha family class A member 4, pseudogene [Homo sapiens]Gene ID:3323Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024