Variant (rsID / SNP)

rs199572129

rs199572129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1B. Location: chromosome 17, position 36,104,563. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HNF1BConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:36104563
Cytoband: 17q12
HGVS: NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)
Allele change: Missense_E105K

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.