Variant (rsID / SNP)

rs149688478

rs149688478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPATA5. Location: chromosome 4, position 123,868,644. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPATA5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:123868644
Cytoband: 4q28.1
HGVS: NM_145207.3(SPATA5):c.1714+1G>A
Allele change: Silent

Associated conditions / phenotypes

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone 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.