Variant (rsID / SNP)

rs3868142

rs3868142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG4. Location: chromosome 16, position 67,320,223. Clinical significance in the table: Likely benign.

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Reference-table entries

PLEKHG4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:67320223
Cytoband: 16q22.1
HGVS: NM_001129729.3(PLEKHG4):c.2489G>A (p.Arg830His)
Allele change: Missense_R830H

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.