Variant (rsID / SNP)

rs147691840

rs147691840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIOBP. Location: chromosome 22, position 38,106,473. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TRIOBPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:38106473
Cytoband: 22q13.1
HGVS: NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn)
Allele change: Missense_D52N

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 28

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.