NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002067181.13
Allele description [Variation Report for NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)]
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Dikarya internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene...
Dikarya internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence.PopSet: 309951705PopSet
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Last Updated: May 26, 2024