Variant (rsID / SNP)

rs117661715

rs117661715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PET100, XAB2. Location: chromosome 19, position 7,696,419. Clinical significance in the table: Benign.

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Reference-table entries

PET100Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:7696419
Cytoband: 19p13.2
HGVS: NM_001171155.2(PET100):c.199C>T (p.Arg67Cys)
Allele change: Missense_R67C

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.