NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) AND Dyskeratosis congenita
- Germline classification:
- Pathogenic (2 submissions)
- 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:
- RCV001054196.9
Allele description [Variation Report for NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)]
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)
Condition(s)
-
Lachnocnema brimo voucher MCZ:DJM-07-A101 histone 3 (H3) gene, partial cds
Lachnocnema brimo voucher MCZ:DJM-07-A101 histone 3 (H3) gene, partial cdsgi|754367133|gb|KP215865.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024