Variant (rsID / SNP)

rs202174251

rs202174251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,542,491. Clinical significance in the table: Uncertain significance.

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Reference-table entries

USH1CUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:17542491
Cytoband: 11p15.1
HGVS: NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp)
Allele change: Missense_G360D

Associated conditions / phenotypes

Usher syndrome type 1C

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.