Variant (rsID / SNP)

rs138410949

rs138410949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF7. Location: chromosome 15, position 90,174,856. 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: 15:90174856
Cytoband: 15q26.1
HGVS: NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
Allele change: Missense_Q994R

Associated conditions / phenotypes

Acrocallosal syndrome|Intellectual disability

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.