Variant (rsID / SNP)

rs12737248

rs12737248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH14. Location: chromosome 1, position 225,555,602. Clinical significance in the table: Benign.

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Reference-table entries

DNAH14Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:225555602
Cytoband: 1q42.12
HGVS: NM_001367479.1(DNAH14):c.12186T>G (p.Asn4062Lys)
Allele change: Missense_N3969K

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.