Individual #00169606

ID_report -
Reference PubMed: Baux 2014
Remarks Proband
Gender F
Consanguinity -
Country Morocco
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     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000134467 Usher type II USH-2 - Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000170479 DNA SEQ - - - 30 Anne-Françoise Roux



Variants

30 entries on 1 page. Showing entries 1 - 30.
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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     

Re-site     

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.215848641T>C - - - USH2A_000028 Homozygous Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Baux 2014 - rs2797235 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 63 NM_206933.2:c.12612A>G - r.(?) p.(=) Fibronectin type-III 27 (4154-4258) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215848641T>C - - - USH2A_000028 Homozygous Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Baux 2014 - rs2797235 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 63 NM_206933.2:c.12612A>G - r.(?) p.(=) Fibronectin type-III 27 (4154-4258) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215901492C>T g.215728150C>T - - USH2A_000058 Homozygous 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 Maternal (inferred) -/- - benign g.215901492C>T g.215728150C>T - - USH2A_000058 Homozygous 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 Paternal (inferred) -/- - benign g.215916421C>T g.215743079C>T - - USH2A_000059 Homozygous PubMed: Baux 2014 - rs2797223 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 59i NM_206933.2:c.11548+98G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215916421C>T g.215743079C>T - - USH2A_000059 Homozygous PubMed: Baux 2014 - rs2797223 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 59i NM_206933.2:c.11548+98G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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.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) -/- - benign g.216172380A>G g.215999038A>G - - USH2A_000033 Homozygous 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 Maternal (inferred) -/- - benign g.216172380A>G g.215999038A>G - - USH2A_000033 Homozygous 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.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.216258194G>T g.216084852G>T - - USH2A_000082 Homozygous PubMed: Baux 2014 - rs56110889 Germline - - +BtsCI;+FokI;+CviKI_1; 0 - Anne-Françoise Roux USH2A - - - - - 25 NM_206933.2:c.5013C>A - r.(?) p.(=) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216258194G>T g.216084852G>T - - USH2A_000082 Homozygous PubMed: Baux 2014 - rs56110889 Germline - - +BtsCI;+FokI;+CviKI_1; 0 - Anne-Françoise Roux USH2A - - - - - 25 NM_206933.2:c.5013C>A - r.(?) p.(=) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.216348764C>T - - - USH2A_000039 Homozygous Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805049 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21 NM_206933.2:c.4457G>A - r.(?) p.(Arg1486Lys) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216348764C>T - - - USH2A_000039 Homozygous Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805049 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21 NM_206933.2:c.4457G>A - r.(?) p.(Arg1486Lys) - - - - - - - - - - - - - - - - - - - -
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) -/- - 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) +/+ - pathogenic g.216595596del g.216422254del 83delT - USH2A_000360 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.83del - r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) +/+ - pathogenic g.216595596del g.216422254del 83delT - USH2A_000360 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.83del - r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31) - - - - - - - - - - - - - - - - - - -
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