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Variant (rsID / SNP)

rs373740199

RTEL1

rs373740199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1. Location: chromosome 20, position 62,324,600. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RTEL1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:62324600
Cytoband
20q13.33
HGVS
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
Allele change
Nonsense_R986X

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal dominant, 4|Dyskeratosis congenita|Dyskeratosis congenita, autosomal recessive 5|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.