Variant (rsID / SNP)

rs115610405

rs115610405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1. Location: chromosome 20, position 62,325,833. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RTEL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:62325833
Cytoband: 20q13.33
HGVS: NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His)
Allele change: Missense_P1034H

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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