Variant (rsID / SNP)

rs183098317

rs183098317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH3. Location: chromosome 13, position 60,548,565. Clinical significance in the table: Benign.

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Reference-table entries

DIAPH3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:60548565
Cytoband: 13q21.2
HGVS: NM_001042517.2(DIAPH3):c.1571A>G (p.Gln524Arg)
Allele change: Missense_Q454R

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.