Variant (rsID / SNP)
rs148797987
rs148797987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD79A. Location: chromosome 19, position 42,383,644. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CD79AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:42383644
- Cytoband
- 19q13.2
- HGVS
- NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)
- Allele change
- Missense_T102N
Associated conditions / phenotypes
Agammaglobulinemia 3, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
