NM_004333.6(BRAF):c.964G>A (p.Ala322Thr) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003087701.3
Allele description [Variation Report for NM_004333.6(BRAF):c.964G>A (p.Ala322Thr)]
NM_004333.6(BRAF):c.964G>A (p.Ala322Thr)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
glycoside hydrolase family 108 protein [Klebsiella aerogenes]
glycoside hydrolase family 108 protein [Klebsiella aerogenes]gi|1879716971|gnl|PRJNA605147|HV316 0|gb|QLS46898.1|Protein
-
nuclear factor of activated T-cells, cytoplasmic 4 isoform 2 [Homo sapiens]
nuclear factor of activated T-cells, cytoplasmic 4 isoform 2 [Homo sapiens]gi|27886563|ref|NP_004545.2|Protein
-
malQ [Shigella boydii]
malQ [Shigella boydii]Gene ID:58390682Gene
-
malQ [Ralstonia pseudosolanacearum]
malQ [Ralstonia pseudosolanacearum]Gene ID:60503173Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024