Variant (rsID / SNP)

rs201494226

rs201494226 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD247. Location: chromosome 1, position 167,487,637. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CD247Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:167487637
Cytoband: 1q24.2
HGVS: NM_198053.3(CD247):c.58+8C>T
Allele change: Silent

Associated conditions / phenotypes

Immunodeficiency 25

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.