Individual #00170281

ID_report -
Reference PubMed: Baux 2014
Remarks Proband
Gender M
Consanguinity -
Country Haiti
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases USH-2
Owner name Anne-Françoise Roux
Database submission license No license selected
Created by Anne-Françoise Roux


Phenotypes

Usher syndrome, type II (USH-2) (USH-2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000135142 Usher type II USH-2 - Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

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Genes screened     

Variants found     

Owner     
0000171154 DNA SEQ;SEQ-NG-S - - - 54 Anne-Françoise Roux



Variants

54 entries on 1 page. Showing entries 1 - 54.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Paternal (inferred) -/- - benign g.215795790G>A g.215622448G>A - - USH2A_000817 Homozygous PubMed: Baux 2014 - rs2677118 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 72_ NM_206933.2:c.*3333C>T - r.(=) p.(=) 3'UTR - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215795790G>A g.215622448G>A - - USH2A_000817 Homozygous PubMed: Baux 2014 - rs2677118 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 72_ NM_206933.2:c.*3333C>T - r.(=) p.(=) 3'UTR - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215796350T>G g.215623008T>G - - USH2A_000586 Homozygous PubMed: Baux 2014 - rs6667509 Germline - - +BbsI;-Tsp509I;-EcoRI;-ApoI; 0 - Anne-Françoise Roux USH2A - - - - - 72 NM_206933.2:c.*2773A>C - r.(=) p.(=) 3'UTR - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215796350T>G g.215623008T>G - - USH2A_000586 Homozygous PubMed: Baux 2014 - rs6667509 Germline - - +BbsI;-Tsp509I;-EcoRI;-ApoI; 0 - Anne-Françoise Roux USH2A - - - - - 72 NM_206933.2:c.*2773A>C - r.(=) p.(=) 3'UTR - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215798014G>A g.215624672G>A - - USH2A_000816 Homozygous PubMed: Baux 2014 - rs2797255 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 72 NM_206933.2:c.*1109C>T - r.(=) p.(=) 3'UTR - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215798014G>A g.215624672G>A - - USH2A_000816 Homozygous PubMed: Baux 2014 - rs2797255 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 72 NM_206933.2:c.*1109C>T - r.(=) p.(=) 3'UTR - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215901531T>A g.215728189T>A - - USH2A_000366 Homozygous PubMed: Baux 2014 - rs61635304 Germline - - -AluI;-CviKI_1;-BstXI; 0 - Anne-Françoise Roux USH2A - - - - - 61 NM_206933.2:c.11907A>T - r.(?) p.(=) Fibronectin type-III 25 (3961-4062) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215901531T>A g.215728189T>A - - USH2A_000366 Homozygous PubMed: Baux 2014 - rs61635304 Germline - - -AluI;-CviKI_1;-BstXI; 0 - Anne-Françoise Roux USH2A - - - - - 61 NM_206933.2:c.11907A>T - r.(?) p.(=) Fibronectin type-III 25 (3961-4062) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215901702C>T g.215728360C>T - - USH2A_000365 Homozygous PubMed: Baux 2014 - rs56053654 Germline - - +TfiI;-PleI;-MlyI;-BseRI; 0 - Anne-Françoise Roux USH2A - - - - - 61 NM_206933.2:c.11736G>A - r.(?) p.(=) Fibronectin type-III 24 (3863-3960) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215901702C>T g.215728360C>T - - USH2A_000365 Homozygous PubMed: Baux 2014 - rs56053654 Germline - - +TfiI;-PleI;-MlyI;-BseRI; 0 - Anne-Françoise Roux USH2A - - - - - 61 NM_206933.2:c.11736G>A - r.(?) p.(=) Fibronectin type-III 24 (3863-3960) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/? ACMG likely benign g.215953288G>T g.215779946G>T - - USH2A_000459 Homozygous; polymorphism PubMed: Baux 2014 - rs61276761 Germline - - +Hpy166II;+CviQI;+RsaI;-BsmFI 0 - Anne-Françoise Roux USH2A - - - - - 55 NM_206933.2:c.10836C>A - r.(?) p.(=) Fibronectin type-III 21 (3590-3676) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/? ACMG likely benign g.215953288G>T g.215779946G>T - - USH2A_000459 Homozygous; polymorphism PubMed: Baux 2014 - rs61276761 Germline - - +Hpy166II;+CviQI;+RsaI;-BsmFI 0 - Anne-Françoise Roux USH2A - - - - - 55 NM_206933.2:c.10836C>A - r.(?) p.(=) Fibronectin type-III 21 (3590-3676) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215956304A>G g.215782962A>G - - USH2A_000030 Homozygous PubMed: Baux 2014 - rs7518466 Germline - - +MnlI 0 - Anne-Françoise Roux USH2A - - - - - 52i NM_206933.2:c.10388-27T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215956304A>G g.215782962A>G - - USH2A_000030 Homozygous PubMed: Baux 2014 - rs7518466 Germline - - +MnlI 0 - Anne-Françoise Roux USH2A - - - - - 52i NM_206933.2:c.10388-27T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215960167T>G g.215786825T>G - - USH2A_000031 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10864198 Germline - - +DraIII 0 - Anne-Françoise Roux USH2A - - - - - 52 NM_206933.2:c.10232A>C - r.(?) p.(Glu3411Ala) Fibronectin type-III 19 (3404-3494) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215960167T>G g.215786825T>G - - USH2A_000031 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10864198 Germline - - +DraIII 0 - Anne-Françoise Roux USH2A - - - - - 52 NM_206933.2:c.10232A>C - r.(?) p.(Glu3411Ala) Fibronectin type-III 19 (3404-3494) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 49 NM_206933.2:c.9595A>G - r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215987222T>C g.215813880T>C - - USH2A_000072 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs4129843 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 49 NM_206933.2:c.9595A>G - r.(?) p.(Asn3199Asp) Cystein rich (3192-3358) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) +/+ - pathogenic g.216011360_216011361del g.215838018_215838019del - - USH2A_000815 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 47 NM_206933.2:c.9345_9346del - r.(?) p.(Pro3116Hisfs*13) Fibronectin type-III 18 (3110-3200) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) +/+ - pathogenic g.216011360_216011361del g.215838018_215838019del - - USH2A_000815 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 47 NM_206933.2:c.9345_9346del - r.(?) p.(Pro3116Hisfs*13) Fibronectin type-III 18 (3110-3200) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216040565T>C g.215867223T>C - - USH2A_000117 Homozygous PubMed: Baux 2014 - rs115882431 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 43i NM_206933.2:c.8682-53A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216040565T>C g.215867223T>C - - USH2A_000117 Homozygous PubMed: Baux 2014 - rs115882431 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 43i NM_206933.2:c.8682-53A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216051287A>G g.215877945A>G - - USH2A_000073 Homozygous PubMed: Baux 2014 - rs7518358 Germline - - +AvaI;+BsoBI;+BslI;-BspCNI;-DdeI; 0 - Anne-Françoise Roux USH2A - - - - - 42i NM_206933.2:c.8559-65T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216051287A>G g.215877945A>G - - USH2A_000073 Homozygous PubMed: Baux 2014 - rs7518358 Germline - - +AvaI;+BsoBI;+BslI;-BspCNI;-DdeI; 0 - Anne-Françoise Roux USH2A - - - - - 42i NM_206933.2:c.8559-65T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/? ACMG likely benign g.216246214T>G g.216072872T>G - - USH2A_000814 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 29i NM_206933.2:c.5857+17A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/? ACMG likely benign g.216246214T>G g.216072872T>G - - USH2A_000814 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 29i NM_206933.2:c.5857+17A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216246678del g.216073336del 5573-34delC - USH2A_000035 Homozygous PubMed: Baux 2014 - rs71556647 Germline - - -MwoI 0 - Anne-Françoise Roux USH2A - - - - - 27i NM_206933.2:c.5573-34del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216246678del g.216073336del 5573-34delC - USH2A_000035 Homozygous PubMed: Baux 2014 - rs71556647 Germline - - -MwoI 0 - Anne-Françoise Roux USH2A - - - - - 27i NM_206933.2:c.5573-34del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216346148A>G g.216172806A>G - - USH2A_000813 Homozygous PubMed: Baux 2014 - rs452747 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+2446T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216346148A>G g.216172806A>G - - USH2A_000813 Homozygous PubMed: Baux 2014 - rs452747 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+2446T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/? ACMG likely benign g.216347138A>T g.216173796A>T - - USH2A_000812 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+1456T>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/? ACMG likely benign g.216347138A>T g.216173796A>T - - USH2A_000812 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+1456T>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/? ACMG likely benign g.216348562C>A g.216175220C>A - - USH2A_000811 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+32G>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/? ACMG likely benign g.216348562C>A g.216175220C>A - - USH2A_000811 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+32G>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216370130T>G g.216196788T>G - - USH2A_000040 Homozygous PubMed: Baux 2014 - rs386851 Germline - - +EcoRI;-MseI; 0 - Anne-Françoise Roux USH2A - - - - - 18i NM_206933.2:c.4082-66A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216370130T>G g.216196788T>G - - USH2A_000040 Homozygous PubMed: Baux 2014 - rs386851 Germline - - +EcoRI;-MseI; 0 - Anne-Françoise Roux USH2A - - - - - 18i NM_206933.2:c.4082-66A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216495191T>G g.216321849T>G - - USH2A_000363 Homozygous PubMed: Baux 2014 - rs7515253 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 09i NM_206933.2:c.1644+34A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216495191T>G g.216321849T>G - - USH2A_000363 Homozygous PubMed: Baux 2014 - rs7515253 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 09i NM_206933.2:c.1644+34A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216495400A>G g.216322058A>G - - USH2A_000810 Homozygous PubMed: Baux 2014 - rs2089947 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 08i NM_206933.2:c.1551-82T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216495400A>G g.216322058A>G - - USH2A_000810 Homozygous PubMed: Baux 2014 - rs2089947 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 08i NM_206933.2:c.1551-82T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216496947G>A g.216323605G>A - - USH2A_000065 Homozygous PubMed: Baux 2014 - rs1805050 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 8 NM_206933.2:c.1419C>T - r.(?) p.(=) Laminin N-terminal (271-517) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216496947G>A g.216323605G>A - - USH2A_000065 Homozygous PubMed: Baux 2014 - rs1805050 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 8 NM_206933.2:c.1419C>T - r.(?) p.(=) Laminin N-terminal (271-517) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 3 NM_206933.2:c.504A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 3 NM_206933.2:c.504A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.373G>A - r.(?) p.(Ala125Thr) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.373G>A - r.(?) p.(Ala125Thr) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-1408T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-1408T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-1689C>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-1689C>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-1707A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-1707A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-2202C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - _1 NM_206933.2:c.-2202C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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