NM_005188.4(CBL):c.1209C>T (p.Ser403=) AND RASopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001400057.14
Allele description [Variation Report for NM_005188.4(CBL):c.1209C>T (p.Ser403=)]
NM_005188.4(CBL):c.1209C>T (p.Ser403=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
RC5-NN1065-180400-031-A02 NN1065 Homo sapiens cDNA, mRNA sequence
RC5-NN1065-180400-031-A02 NN1065 Homo sapiens cDNA, mRNA sequencegi|8069054|gnl|dbEST|4391581|gb|AW9 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024