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Variant (rsID / SNP)

rs143877028

KIF7

rs143877028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF7. Location: chromosome 15, position 90,171,840. 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
15:90171840
Cytoband
15q26.1
HGVS
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)
Allele change
Missense_S1281I

Associated conditions / phenotypes

Acrocallosal syndrome|Multiple epiphyseal dysplasia, Al-Gazali type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.