Variant (rsID / SNP)

rs143275144

rs143275144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,821,933. Clinical significance in the table: Uncertain significance.

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Reference-table entries

USH2AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:215821933
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
Allele change: Missense_L4840P

Associated conditions / phenotypes

Retinal dystrophy|Usher syndrome type 2A|Hearing impairment

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.