Variant (rsID / SNP)

rs200220260

rs200220260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH1. Location: chromosome 5, position 140,913,958. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DIAPH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:140913958
Cytoband: 5q31.3
HGVS: NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg)
Allele change: Missense_Q833P

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.