Variant (rsID / SNP)

rs17150692

rs17150692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKBP14. Location: chromosome 7, position 30,065,960. Clinical significance in the table: Benign.

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Reference-table entries

FKBP14Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:30065960
Cytoband: 7p14.3
HGVS: NM_017946.4(FKBP14):c.165C>T (p.Tyr55=)
Allele change: Synonymous_Y55Y

Associated conditions / phenotypes

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type|Ehlers-Danlos 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.