Variant (rsID / SNP)

rs141514601

rs141514601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF7. Location: chromosome 15, position 90,176,960. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KIF7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:90176960
Cytoband: 15q26.1
HGVS: NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)
Allele change: Missense_R850L

Associated conditions / phenotypes

Acrocallosal syndrome

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.