Variant (rsID / SNP)

rs121912585

rs121912585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF21A. Location: chromosome 12, position 39,726,207. Clinical significance in the table: Pathogenic.

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Reference-table entries

KIF21APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:39726207
Cytoband: 12q12
HGVS: NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)
Allele change: Missense_R954W

Associated conditions / phenotypes

Congenital fibrosis of extraocular muscles type 1|Fibrosis of extraocular muscles, congenital, 3B

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.