Variant (rsID / SNP)
rs41309931
rs41309931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTEL1, TNFRSF6B. Location: chromosome 20, position 62,326,579. Clinical significance in the table: Benign.
Reference-table entries
RTEL1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:62326579
- Cytoband
- 20q13.33
- HGVS
- NM_001283009.2(RTEL1):c.3499+5G>T
- Allele change
- Silent
Associated conditions / phenotypes
Dyskeratosis congenita|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita, autosomal recessive 5|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.