NM_006912.6(RIT1):c.268A>G (p.Met90Val) AND Noonan syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001261143.2
Allele description [Variation Report for NM_006912.6(RIT1):c.268A>G (p.Met90Val)]
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
Condition(s)
-
Homo sapiens odorant binding protein 2A, mRNA (cDNA clone MGC:96937 IMAGE:726214...
Homo sapiens odorant binding protein 2A, mRNA (cDNA clone MGC:96937 IMAGE:7262146), complete cdsgi|47479497|gb|BC069563.1|Nucleotide
-
Flared metaphysis
Flared metaphysisMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024