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Variant (rsID / SNP)

rs569032124

USH1G

rs569032124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1G. Location: chromosome 17, position 72,915,779. 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
17:72915779
Cytoband
17q25.1
HGVS
NM_173477.5(USH1G):c.1152C>T (p.Asp384=)
Allele change
Synonymous_D384D

Associated conditions / phenotypes

Usher syndrome type 1G

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.