Variant (rsID / SNP)

rs696763

rs696763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C9. Location: chromosome 5, position 39,341,345. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

C9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:39341345
Cytoband: 5p13.1
HGVS: NM_001737.5(C9):c.379G>T (p.Asp127Tyr)
Allele change: Missense_D127Y

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.