Variant (rsID / SNP)

rs143614333

rs143614333 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CR2. Location: chromosome 1, position 207,646,222. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CR2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:207646222
Cytoband: 1q32.2
HGVS: NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)
Allele change: Missense_G559E

Associated conditions / phenotypes

Immunodeficiency, common variable, 7

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.