Variant (rsID / SNP)

rs8057701

rs8057701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS2. Location: chromosome 16, position 4,387,424. Clinical significance in the table: Benign.

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Reference-table entries

GLIS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:4387424
Cytoband: 16p13.3
HGVS: NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala)
Allele change: Missense_T492A

Associated conditions / phenotypes

Nephronophthisis|Nephronophthisis 7

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.