Individual #00170288

ID_report -
Reference PubMed: Baux 2014
Remarks Proband - unclear USH phenotype
Gender M
Consanguinity -
Country France
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     
0000135149 - Usher type I USH-1 Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171161 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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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IDbase Accession Number     

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VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

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RNA change     

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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 -/- ACMG VUS g.215847979G>A g.215674637G>A - - USH2A_000049 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - +FatI;+NlaIII;+CviAII;-BsgI; 0 - Anne-Françoise Roux USH2A - - - - - 63 NM_206933.2:c.13274C>T - r.(?) p.(Thr4425Met) Fibronectin type-III 29 (4356-4439) - - - - - - - - - - - - - - - - - - -
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 -/- ACMG likely benign g.215848910G>A g.215675568G>A - - USH2A_000050 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033275 Germline - - +Tsp509I;-TfiI;-HinfI; 0 - Anne-Françoise Roux USH2A - - - - - 63 NM_206933.2:c.12343C>T - r.(?) p.(Arg4115Cys) Fibronectin type-III 26 (4066-4150) - - - - - - - - - - - - - - - - - - -
1 Paternal (inferred) -/- - benign g.215916730G>A g.215743388G>A - - USH2A_000258 Homozygous PubMed: Baux 2014 - rs6540907 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 58i NM_206933.2:c.11390-53C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Maternal (inferred) -/- - benign g.215916730G>A g.215743388G>A - - USH2A_000258 Homozygous PubMed: Baux 2014 - rs6540907 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 58i NM_206933.2:c.11390-53C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.215916732G>A g.215743390G>A - - USH2A_000822 Heterozygous PubMed: Baux 2014 - rs4053764 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 58i NM_206933.2:c.11390-55C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216074312G>A g.215900970G>A - - USH2A_000338 Heterozygous PubMed: Baux 2014 - rs41277204 Germline - - -TaqI 0 - Anne-Françoise Roux USH2A - - - - - 38i NM_206933.2:c.7301-65C>T - r.(?) p.(?) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216107929T>C g.215934587T>C - - USH2A_000053 Heterozygous PubMed: Baux 2014 - rs41277208 Germline - - +BfaI;-Tsp509I; 0 - Anne-Françoise Roux USH2A - - - - - 38i NM_206933.2:c.7300+29A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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 Unknown -/- - benign g.216219781G>A - - - USH2A_000034 Heterozygous Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - Anne-Françoise Roux USH2A - - - - - 32 NM_206933.2:c.6317C>T - r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous 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 Unknown -/- - benign g.216270618G>A g.216097276G>A - - USH2A_000037 Heterozygous PubMed: Baux 2014 - rs7540411 Germline - - -CviQI;-BsrGI;-RsaI; 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4628-63C>T - 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 Unknown -/- - benign g.216348449A>C g.216175107A>C - - USH2A_000821 Heterozygous PubMed: Baux 2014 - rs55761862 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+145T>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216348764C>T - - - USH2A_000039 Heterozygous 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 Unknown -/- - benign g.216370130T>G g.216196788T>G - - USH2A_000040 Heterozygous PubMed: Baux 2014 - rs386851 Germline - - +EcoRI;-MseI; 0 - Anne-Françoise Roux USH2A - - - - - 18i NM_206933.2:c.4082-66A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216390694C>T g.216217352C>T - - USH2A_000041 Heterozygous 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 Unknown -/- - pathogenic g.216420460C>A g.216247118C>A - - USH2A_000016 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs80338902 Germline - - +MboII;-HpyCH4V 0 - Anne-Françoise Roux USH2A - - - - - 13 NM_206933.2:c.2276G>T - r.(?) p.(Cys759Phe) Laminin EGF-like 5 (747-794) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216420480A>G g.216247138A>G - - USH2A_000055 Heterozygous PubMed: Baux 2014 - rs111033281 Germline - - +BceAI;-CviAII;-NcoI;-FatI; 0 - Anne-Françoise Roux USH2A - - - - - 13 NM_206933.2:c.2256T>C - r.(?) p.(=) 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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