Variant (rsID / SNP)

rs199522817

rs199522817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRAP53, EFNB3. Location: chromosome 17, position 7,606,605. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

WRAP53Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:7606605
Cytoband: 17p13.1
HGVS: NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His)
Allele change: Missense_R483H

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.