Variant (rsID / SNP)

rs78910014

rs78910014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFAP251. Location: chromosome 12, position 122,386,948. Clinical significance in the table: Benign.

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Reference-table entries

CFAP251Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:122386948
Cytoband: 12q24.31
HGVS: NM_144668.6(CFAP251):c.1250G>A (p.Arg417Gln)
Allele change: Missense_R417Q

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.