Variant (rsID / SNP)

rs200189161

rs200189161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIAPH3. Location: chromosome 13, position 60,384,960. Clinical significance in the table: Likely benign.

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Reference-table entries

DIAPH3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:60384960
Cytoband: 13q21.2
HGVS: NM_001042517.2(DIAPH3):c.3125G>A (p.Arg1042His)
Allele change: Missense_R972H

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.