Variant (rsID / SNP)

rs117352600

rs117352600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WHRN. Location: chromosome 9, position 117,186,678. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

WHRNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:117186678
Cytoband: 9q32
HGVS: NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp)
Allele change: Missense_G451D

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 31|Usher syndrome type 2D

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.