Variant (rsID / SNP)

rs111033465

rs111033465 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1G. Location: chromosome 17, position 72,916,543. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

USH1GBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:72916543
Cytoband: 17q25.1
HGVS: NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
Allele change: Missense_K130E

Associated conditions / phenotypes

Usher syndrome type 1G

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.