NM_001031698.3(PRPF40B):c.1783G>C (p.Val595Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004219549.1
Allele description [Variation Report for NM_001031698.3(PRPF40B):c.1783G>C (p.Val595Leu)]
NM_001031698.3(PRPF40B):c.1783G>C (p.Val595Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 i...
probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X3 [Canis lupus familiaris]gi|1953291325|ref|XP_038541816.1|Protein
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Last Updated: Oct 8, 2024