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Variant (rsID / SNP)

rs763068104

AGK

rs763068104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGK. Location: chromosome 7, position 141,341,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:141341184
Cytoband
7q34
HGVS
NM_018238.4(AGK):c.863C>T (p.Ala288Val)
Allele change
Missense_A288V

Associated conditions / phenotypes

Sengers syndrome|Cataract 38

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.