TPRN Chromosome 9
Taperin
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What This Gene Does
This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]
Associated Conditions (9)
Inborn genetic diseases
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 79
Uterine corpus endometrial carcinoma
Rare genetic deafness
Hearing loss
autosomal recessive
TPRN-related disorder
Ear malformation
Key Variants
RS1237897972
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1281849633
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1331270134
Conflicting classifications of pathogenicity
Health Risk
RS138547889
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS139520402
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 79
Health Risk
RS140967677
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144139211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases
Health Risk
RS150581033
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
Health Risk
RS150844105
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374735561
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376962634
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
Health Risk
RS377461469
Conflicting classifications of pathogenicity
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1237897972 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1281849633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1331270134 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138547889 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Hearing impairment |
| RS139520402 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 79 |
| RS140967677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144139211 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases |
| RS150581033 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS150844105 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374735561 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376962634 | Health Risk | Conflicting classifications of pathogenicity | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS377461469 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS548415902 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS554413595 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS559890679 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS576809784 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727503520 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS72763296 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750560040 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777517753 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780953179 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases |
| RS914939520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS957567268 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS957768814 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS971592946 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS986819935 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1161092674 | Health Risk | Likely pathogenic | — |
| RS1187168418 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS1341134360 | Health Risk | Likely pathogenic | — |
| RS1834782818 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2538729239 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS2538732484 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS975049556 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1564386891 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS2538730818 | Health Risk | Pathogenic | — |
| RS2538731287 | Health Risk | Pathogenic | — |
| RS387906219 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS387906220 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS387906222 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS745624228 | Health Risk | Pathogenic | — |
| RS760025627 | Health Risk | Pathogenic | — |
| RS765756665 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS894541189 | Health Risk | Pathogenic | — |
| RS1011757302 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS267607135 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Hearing loss, autosomal recessive |
| RS387906221 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 79, Rare genetic deafness, TPRN-related disorder |
| RS760851760 | Health Risk | Pathogenic/Likely pathogenic | — |