NM_002834.5(PTPN11):c.171_173del (p.Gln57_Asn58delinsHis) AND RASopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003041131.3
Allele description [Variation Report for NM_002834.5(PTPN11):c.171_173del (p.Gln57_Asn58delinsHis)]
NM_002834.5(PTPN11):c.171_173del (p.Gln57_Asn58delinsHis)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
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ydgK [Bacillus subtilis subsp. subtilis str. 168]
ydgK [Bacillus subtilis subsp. subtilis str. 168]Gene ID:938060Gene
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Gene Links for GEO Profiles (Select 129966450) (1)
Gene
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Homologene neighbors for GEO Profiles (Select 132275520) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 132256787) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 129966440) (140)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024