NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu) AND Dyskeratosis congenita
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 4, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001236715.2
Allele description [Variation Report for NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu)]
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu)
Condition(s)
-
proprotein convertase subtilisin/kexin type 7 precursor [Rattus norvegicus]
proprotein convertase subtilisin/kexin type 7 precursor [Rattus norvegicus]gi|9506957|ref|NP_062119.1|Protein
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Last Updated: Sep 29, 2024