Variant (rsID / SNP)

rs281865547

rs281865547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRAP53. Location: chromosome 17, position 7,592,602. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

WRAP53Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7592602
Cytoband: 17p13.1
HGVS: NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)
Allele change: Missense_F164L

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal recessive 3

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.