Variant (rsID / SNP)

rs7464181

rs7464181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CA8. Location: chromosome 8, position 61,178,574. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CA8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:61178574
Cytoband: 8q12.1
HGVS: NM_004056.6(CA8):c.327A>G (p.Glu109=)
Allele change: Silent

Associated conditions / phenotypes

History of neurodevelopmental disorder|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

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.