Variant (rsID / SNP)

rs79350244

rs79350244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH2. Location: chromosome 17, position 7,734,114. Clinical significance in the table: Benign.

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Reference-table entries

DNAH2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:7734114
Cytoband: 17p13.1
HGVS: NM_020877.5(DNAH2):c.12184A>C (p.Ile4062Leu)
Allele change: Missense_I4062L

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.