NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Dyskeratosis congenita, autosomal dominant 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460466.1
Allele description [Variation Report for NM_198253.3(TERT):c.2594G>A (p.Arg865His)]
NM_198253.3(TERT):c.2594G>A (p.Arg865His)
Condition(s)
-
AMP-binding enzyme [Mycolicibacterium smegmatis MC2 155]
AMP-binding enzyme [Mycolicibacterium smegmatis MC2 155]gi|118172188|gnl|tigr|MSMEG_4254|gb 3084.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024