Variant (rsID / SNP)

rs200291290

rs200291290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH3. Location: chromosome 13, position 60,453,581. 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: 13:60453581
Cytoband: 13q21.2
HGVS: NM_001042517.2(DIAPH3):c.2389C>T (p.Arg797Trp)
Allele change: Missense_R727W

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.