Variant (rsID / SNP)

rs7254346

rs7254346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK3. Location: chromosome 19, position 17,958,777. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

JAK3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:17958777
Cytoband: 19p13.11
HGVS: NM_000215.4(JAK3):c.-36A>G
Allele change: Silent

Associated conditions / phenotypes

T-B+ severe combined immunodeficiency due to JAK3 deficiency

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.