Variant (rsID / SNP)

rs111539520

rs111539520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH3. Location: chromosome 16, position 20,974,740. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAH3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:20974740
Cytoband: 16p12.3
HGVS: NM_001347886.2(DNAH3):c.10328G>A (p.Arg3443Gln)
Allele change: Missense_R3443Q

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.