NM_001330701.2(AGTPBP1):c.3640G>A (p.Val1214Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003214290.2
Allele description [Variation Report for NM_001330701.2(AGTPBP1):c.3640G>A (p.Val1214Ile)]
NM_001330701.2(AGTPBP1):c.3640G>A (p.Val1214Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens proline rich 5 (PRR5), RefSeqGene on chromosome 22
Homo sapiens proline rich 5 (PRR5), RefSeqGene on chromosome 22gi|1543378443|ref|NG_029235.2|Nucleotide
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Last Updated: May 1, 2024