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Variant (rsID / SNP)

rs370343781

RTEL1

rs370343781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1. Location: chromosome 20, position 62,319,118. 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
20:62319118
Cytoband
20q13.33
HGVS
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
Allele change
Missense_M492I

Associated conditions / phenotypes

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

Public references

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