Variant (rsID / SNP)

rs62623377

rs62623377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH7. Location: chromosome 2, position 196,740,524. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAH7Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:196740524
Cytoband: 2q32.3
HGVS: NM_018897.3(DNAH7):c.6161A>G (p.Tyr2054Cys)
Allele change: Missense_Y2054C

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.