Variant (rsID / SNP)

rs35269563

rs35269563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGK. Location: chromosome 7, position 141,255,295. Clinical significance in the table: Likely benign.

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Reference-table entries

AGKLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:141255295
Cytoband: 7q34
HGVS: NM_018238.4(AGK):c.29A>G (p.Asn10Ser)
Allele change: Missense_N10S

Associated conditions / phenotypes

Sengers syndrome|Cataract 38

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.