NM_002880.4(RAF1):c.1695T>C (p.Tyr565=) AND RASopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003654185.2
Allele description [Variation Report for NM_002880.4(RAF1):c.1695T>C (p.Tyr565=)]
NM_002880.4(RAF1):c.1695T>C (p.Tyr565=)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
Homo sapiens deoxyribonuclease I-like 2 (DNASE1L2), mRNA
Homo sapiens deoxyribonuclease I-like 2 (DNASE1L2), mRNAgi|4503346|ref|NM_001374.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024