Variant (rsID / SNP)

rs8179065

rs8179065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF7. Location: chromosome 15, position 90,196,008. Clinical significance in the table: Benign.

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Reference-table entries

KIF7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:90196008
Cytoband: 15q26.1
HGVS: NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
Allele change: Missense_D52N

Associated conditions / phenotypes

Acrocallosal syndrome|Multiple epiphyseal dysplasia, Al-Gazali type|Hydrolethalus syndrome 2

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.