Individual #00170289

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     
0000135150 Usher type II USH-2 - Unknown - - - - - Anne-Françoise Roux



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171162 DNA SEQ;SEQ-NG-S - - - 27 Anne-Françoise Roux



Variants

27 entries on 1 page. Showing entries 1 - 27.
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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     

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VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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 -/- - benign g.215848587T>C g.215675245T>C - - USH2A_000047 Heterozygous 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.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.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous 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 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 Unknown -/- - benign g.216346148A>G g.216172806A>G - - USH2A_000813 Heterozygous PubMed: Baux 2014 - rs452747 Germline - - - 0 - Anne-Françoise Roux USH2A - - - - - 21i NM_206933.2:c.4627+2446T>C - 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.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous 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 Unknown -/- - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none 0 - Anne-Françoise Roux USH2A - - - - - 11 NM_206933.2:c.1931A>T - r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) - - - - - - - - - - - - - - - - - - -
1 Unknown +?/? ACMG VUS g.216538426A>T g.216365084A>T - - USH2A_000067 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HpyCH4V 0 - Anne-Françoise Roux USH2A - - - - - 4 NM_206933.2:c.653T>A - r.(653u>a) p.(Val218Glu) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216538507A>G g.216365165A>G - - USH2A_000121 Heterozygous PubMed: Baux 2014 - rs45594833 Germline - - +MseI 0 - Anne-Françoise Roux USH2A - - - - - 03i NM_206933.2:c.652-80T>C - 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 Unknown -/- - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous 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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