Variant (rsID / SNP)

rs78616703

rs78616703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF21A. Location: chromosome 12, position 39,751,215. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KIF21ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:39751215
Cytoband: 12q12
HGVS: NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg)
Allele change: Missense_G414R

Associated conditions / phenotypes

Congenital fibrosis of extraocular muscles type 1

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.