Individual #00170204

ID_report -
Reference PubMed: Baux 2014
Remarks Proband
Gender M
Consanguinity -
Country France
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     
0000135065 Usher type II USH-2 - Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171077 DNA SEQ - - - 22 Anne-Françoise Roux



Variants

22 entries on 1 page. Showing entries 1 - 22.
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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     

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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     

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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.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 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.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; 0 - Anne-Françoise Roux USH2A - - - - - 60 NM_206933.2:c.11602A>G - r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; 0 - Anne-Françoise Roux USH2A - - - - - 60 NM_206933.2:c.11602A>G - r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; 0 - Anne-Françoise Roux USH2A - - - - - 59 NM_206933.2:c.11504C>T - r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; 0 - Anne-Françoise Roux USH2A - - - - - 59 NM_206933.2:c.11504C>T - r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) - - - - - - - - - - - - - - - - - - -
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.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.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 25 NM_206933.2:c.4994T>C - r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 25 NM_206933.2:c.4994T>C - r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - - - - - - - -
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.216595607A>C g.216422265A>C - - USH2A_000734 Homozygous PubMed: Baux 2014 - - Germline - - +BfaI 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.72T>G - r.(?) p.(Tyr24*) Signal peptide (1-31) - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) +/+ - pathogenic g.216595607A>C g.216422265A>C - - USH2A_000734 Homozygous PubMed: Baux 2014 - - Germline - - +BfaI 0 - Anne-Françoise Roux USH2A - - - - - 2 NM_206933.2:c.72T>G - r.(?) p.(Tyr24*) Signal peptide (1-31) - - - - - - - - - - - - - - - - - - -
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