Variant (rsID / SNP)

rs8942

rs8942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C4BPB. Location: chromosome 1, position 207,269,919. Clinical significance in the table: Benign.

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Reference-table entries

C4BPBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:207269919
Cytoband: 1q32.1
HGVS: NM_001017365.3(C4BPB):c.462C>T (p.Asn154=)
Allele change: Synonymous_N154N

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.