Variant (rsID / SNP)

rs10778752

rs10778752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPRQ. Location: chromosome 12, position 80,889,829. Clinical significance in the table: Benign.

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Reference-table entries

PTPRQBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:80889829
Cytoband: 12q21.31
HGVS: NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp)
Allele change: Missense_V473D

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 84A|Hearing loss, autosomal dominant 73

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.