Individual #00170284

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


Phenotypes

Usher syndrome, type 1 (USH-1) (USH-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000135145 - Usher type I USH-1 Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171157 DNA SEQ;SEQ-NG-S - - - 37 Anne-Françoise Roux



Variants

37 entries on 1 page. Showing entries 1 - 37.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

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.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 Unknown -/- - benign g.215798992C>T g.215625650C>T - - USH2A_000096 Heterozygous PubMed: Baux 2014 - - Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 72 NM_206933.2:c.*131G>A - r.(=) p.(=) 3'UTR - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215848587T>C g.215675245T>C - - USH2A_000047 Homozygous PubMed: Baux 2014 - rs2797234 Germline - - +HpyCH4IV 0 - Anne-Françoise Roux USH2A - - - - - 63 NM_206933.2:c.12666A>G - r.(?) p.(=) Fibronectin type-III 27 (4154-4258) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215848587T>C g.215675245T>C - - USH2A_000047 Homozygous PubMed: Baux 2014 - rs2797234 Germline - - +HpyCH4IV 0 - Anne-Françoise Roux USH2A - - - - - 63 NM_206933.2:c.12666A>G - r.(?) p.(=) Fibronectin type-III 27 (4154-4258) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.215901492C>T g.215728150C>T - - USH2A_000058 Heterozygous PubMed: Baux 2014 - rs2820718 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 61 NM_206933.2:c.11946G>A - r.(?) p.(=) Fibronectin type-III 25 (3961-4062) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.215914751G>T g.215741409G>T - - USH2A_000052 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41303285 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 60 NM_206933.2:c.11677C>A - r.(?) p.(Pro3893Thr) Fibronectin type-III 24 (3863-3960) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.215916421C>T g.215743079C>T - - USH2A_000059 Heterozygous PubMed: Baux 2014 - rs2797223 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 59i NM_206933.2:c.11548+98G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.215956304A>G g.215782962A>G - - USH2A_000030 Heterozygous PubMed: Baux 2014 - rs7518466 Germline - - +MnlI 0 - Anne-Françoise Roux USH2A - - - - - 52i NM_206933.2:c.10388-27T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.215960167T>G g.215786825T>G - - USH2A_000031 Heterozygous 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 Unknown -/- - benign g.216064785G>A g.215891443G>A - - USH2A_000818 Heterozygous PubMed: Baux 2014 - rs72742769 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 40i NM_206933.2:c.7595-2389C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216144049C>T g.215970707C>T - - USH2A_000054 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277210 Germline - - +CviAII;+NlaIII;+FatI; 0 - Anne-Françoise Roux USH2A - - - - - 36 NM_206933.2:c.6875G>A - r.(?) p.(Arg2292His) Fibronectin type-III 9 (2241-2325) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216172380A>G g.215999038A>G - - USH2A_000033 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10864219 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 34 NM_206933.2:c.6506T>C - r.(?) p.(Ile2169Thr) Fibronectin type-III 8 (2142-2236) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI 0 - Anne-Françoise Roux USH2A - - - - - 22 NM_206933.2:c.4714C>T - r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI 0 - Anne-Françoise Roux USH2A - - - - - 22 NM_206933.2:c.4714C>T - r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - - - - - - - -
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) -/- - 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.216390694C>T g.216217352C>T - - USH2A_000041 Homozygous PubMed: Baux 2014 - rs1324330 Germline - - -ApeKI;-BbvI;-Fnu4HI;-TseI; 0 - Anne-Françoise Roux USH2A - - - - - 15i NM_206933.2:c.3157+35G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216390694C>T g.216217352C>T - - USH2A_000041 Homozygous PubMed: Baux 2014 - rs1324330 Germline - - -ApeKI;-BbvI;-Fnu4HI;-TseI; 0 - Anne-Françoise Roux USH2A - - - - - 15i NM_206933.2:c.3157+35G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Baux 2014 - rs80338903 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 13 NM_206933.2:c.2299del - r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Baux 2014 - rs80338903 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 13 NM_206933.2:c.2299del - r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) - - - - - - - - - - - - - - - - - - -
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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