Variant (rsID / SNP)

rs4134804

rs4134804 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PET100, XAB2. Location: chromosome 19, position 7,695,513. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PET100Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:7695513
Cytoband: 19p13.2
HGVS: NM_001171155.2(PET100):c.82G>A (p.Glu28Lys)
Allele change: Missense_E28K

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.