NM_002900.3(RBP3):c.1037G>A (p.Arg346His) AND not specified
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001723760.3
Allele description [Variation Report for NM_002900.3(RBP3):c.1037G>A (p.Arg346His)]
NM_002900.3(RBP3):c.1037G>A (p.Arg346His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens SEC24 homolog B, COPII coat complex component (SEC24B), transcript ...
Homo sapiens SEC24 homolog B, COPII coat complex component (SEC24B), transcript variant 5, mRNAgi|1890269431|ref|NM_001318086.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024