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Variant (rsID / SNP)

rs146221660

RTEL1

rs146221660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1. Location: chromosome 20, position 62,324,601. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RTEL1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:62324601
Cytoband
20q13.33
HGVS
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)
Allele change
Missense_R986Q

Associated conditions / phenotypes

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

Public references

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