NM_007373.4(SHOC2):c.660T>C (p.Leu220=) AND RASopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002144052.6
Allele description [Variation Report for NM_007373.4(SHOC2):c.660T>C (p.Leu220=)]
NM_007373.4(SHOC2):c.660T>C (p.Leu220=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
AGFG2 ArfGAP with FG repeats 2 [Homo sapiens]
AGFG2 ArfGAP with FG repeats 2 [Homo sapiens]Gene ID:3268Gene
-
3268[uid] AND (alive[prop]) (1)
Gene
-
ALDOC [Chlorocebus sabaeus]
ALDOC [Chlorocebus sabaeus]Gene ID:103242625Gene
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Last Updated: Sep 29, 2024