Variant (rsID / SNP)

rs527236137

rs527236137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,848,243. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

USH2APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:215848243
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
Allele change: Missense_T4337M

Associated conditions / phenotypes

Usher syndrome type 2A|Rare genetic deafness|Retinitis pigmentosa 39|Retinal dystrophy

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.