Variant (rsID / SNP)

rs776744306

rs776744306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1. Location: chromosome 20, position 62,321,795. 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: 20:62321795
Cytoband: 20q13.33
HGVS: NM_001283009.2(RTEL1):c.2413+1G>C
Allele change: Silent

Associated conditions / phenotypes

Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Idiopathic Pulmonary Fibrosis|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.