Variant (rsID / SNP)

rs147967199

rs147967199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1G. Location: chromosome 17, position 72,916,216. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

USH1GConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:72916216
Cytoband: 17q25.1
HGVS: NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
Allele change: Missense_K239Q

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.