Individual #00166651

ID_report -
Reference PubMed: Le Quesne Stabej 2012
Remarks Proband
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases USH2
Owner name Maria Bitner-Glindzicz
Database submission license No license selected
Created by Maria Bitner-Glindzicz
Date created 2011-09-12 16:32:40 +02:00 (CEST)
Date last edited 2018-07-23 10:59:25 +02:00 (CEST)


Phenotypes

Usher syndrome, type II (USH-2) (USH2)   Add phenotype for this disease

AscendingPhenotype ID     

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Protein     

Owner     
0000131515 Usher syndrome - - Unknown - - - - - Maria Bitner-Glindzicz



Screenings


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Variants found     

Owner     
0000167530 DNA SEQ - - - 10 Maria Bitner-Glindzicz



Variants

10 entries on 1 page. Showing entries 1 - 10.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown -/- - benign g.216011361T>C g.215838019T>C - - USH2A_000068 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs56032526 Germline - - none - - Maria Bitner-Glindzicz USH2A - - - - 47 NM_206933.2:c.9343A>G - r.(?) p.(Thr3115Ala) Fibronectin type-III 18 (3110-3200) - - - - - - - - - - - - -
1 Unknown -/- - benign g.216051125G>A g.215877783G>A - - USH2A_000070 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277200 Germline - 53/840 controls -CviKI_1 - - Maria Bitner-Glindzicz USH2A - - - - 43 NM_206933.2:c.8656C>T - r.(?) p.(Leu2886Phe) Fibronectin type-III 15 (2821-2920) - - - - - - - - - - - - -
1 Unknown -/- - benign g.216052549A>G g.215879207A>G - - USH2A_000562 Heterozygous; Not Assessed PubMed: Le Quesne Stabej 2012 - - Germline - - +DdeI - - Maria Bitner-Glindzicz USH2A - - - - 41i NM_206933.2:c.8224-109T>C - r.(=) p.(=) - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - Maria Bitner-Glindzicz USH2A - - - - 36i NM_206933.2:c.6957+19A>G - r.(=) p.(=) - - - - - - - - - - - - - -
1 Unknown +/+ - pathogenic g.216246595_216246601del g.216073253_216073259del 5614_5620delGCTGTCG - USH2A_000597 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - -HincII;-Hpy166II;-DraIII;-HpaI; - - Maria Bitner-Glindzicz USH2A - - - - 28 NM_206933.2:c.5614_5620del - r.(?) p.(Ala1872Leufs*58) Fibronectin type-III 5 (1871-1949) - - - - - - - - - - - - -
1 Unknown -/- - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - Maria Bitner-Glindzicz USH2A - - - - 22 NM_206933.2:c.4714C>T - r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - -
1 Unknown +/+ - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - Maria Bitner-Glindzicz 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; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - Maria Bitner-Glindzicz USH2A - - - - 11 NM_206933.2:c.1931A>T - r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) - - - - - - - - - - - - -
5 Unknown -/- - benign g.90111593T>C g.90815776T>C - - GPR98_000025 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41315904 Germline - 0/96 controls none - - Maria Bitner-Glindzicz GPR98 - - - - 75i NM_032119.3:c.16196+40T>C - r.(=) p.(=) - - - - - - - - - - - - - -
10 Unknown -?/? ACMG likely benign g.73572538G>A g.71812781G>A - - CDH23_000161 heterozygous; UV1 PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs140884994 Germline - 0/878 controls +FatI;+NlaIII;+CviAII; - - Maria Bitner-Glindzicz CDH23 - - - - 68 NM_022124.5:c.9524G>A - r.(?) p.(Arg3175His) Cytoplasmic (3086-3354) - - - - - - - - - - - - -
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