Variant (rsID / SNP)

rs41302954

rs41302954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1. Location: chromosome 20, position 62,309,514. 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: 20:62309514
Cytoband: 20q13.33
HGVS: NM_001283009.2(RTEL1):c.936G>A (p.Leu312=)
Allele change: Synonymous_L312L

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.