Variant (rsID / SNP)

rs62623593

rs62623593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH7. Location: chromosome 2, position 196,749,512. Clinical significance in the table: Benign.

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Reference-table entries

DNAH7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:196749512
Cytoband: 2q32.3
HGVS: NM_018897.3(DNAH7):c.5560A>G (p.Ile1854Val)
Allele change: Missense_I1854V

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.