Variant (rsID / SNP)

rs766413410

rs766413410 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGK. Location: chromosome 7, position 141,315,268. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:141315268
Cytoband: 7q34
HGVS: NM_018238.4(AGK):c.424-3C>G
Allele change: Silent

Associated conditions / phenotypes

Cataract 38|Sengers syndrome|Inborn genetic diseases|Autosomal recessive AGK-related phenotype

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.