Individual #00169250

ID_report -
Reference PubMed: Jaijo 2010
Remarks Proband
Gender F
Consanguinity -
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases USH-2
Owner name Jose Maria Millan
Database submission license No license selected
Created by Jose Maria Millan


Phenotypes

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

AscendingPhenotype ID     

Diagnosis/Initial     

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Phenotype details     

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Age/Examination     

Age/Diagnosis     

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Owner     
0000134111 Usher type II USH-2 - Unknown - - - - - Jose Maria Millan



Screenings


AscendingScreening ID     

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Tissue     

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Genes screened     

Variants found     

Owner     
0000170123 DNA SEQ - - - 9 Jose Maria Millan



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

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dbSNP ID     

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IDbase Accession Number     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Unknown -/- - benign g.216073395G>A g.215900053G>A - - USH2A_000074 Heterozygous PubMed: Jaijo 2010 - rs12401812 Germline - - none 0 - Jose Maria Millan USH2A - - - - - 40i NM_206933.2:c.7594+22C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216073505C>T g.215900163C>T - - USH2A_000069 Heterozygous PubMed: Jaijo 2010 - rs12404427 Germline - - -RsaI;-HpyCH4III;-Hpy166II; 0 - Jose Maria Millan USH2A - - - - - 40 NM_206933.2:c.7506G>A - r.(?) p.(=) Fibronectin type-III 11 (2435-2528) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Jaijo 2010 - rs6689120 Germline - - +HpyCH4IV 0 - Jose Maria Millan USH2A - - - - - 36i NM_206933.2:c.6957+19A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs6657250 Germline - - -HpyCH4III 0 - Jose Maria Millan USH2A - - - - - 32 NM_206933.2:c.6317C>T - r.(?) p.(Thr2106Ile) Fibronectin type-III 7 (2052-2138) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216258194G>T g.216084852G>T - - USH2A_000082 Heterozygous PubMed: Jaijo 2010 - rs56110889 Germline - - +BtsCI;+FokI;+CviKI_1; 0 - Jose Maria Millan USH2A - - - - - 25 NM_206933.2:c.5013C>A - r.(?) p.(=) Laminin G-like 1 (1517-1709) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216348765T>C g.216175423T>C - - USH2A_000362 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - 0 - Jose Maria Millan USH2A - - - - - 21 NM_206933.2:c.4456A>G - r.(?) p.(Arg1486Gly) - - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/+ - pathogenic g.216420304_216420305del g.216246962_216246963del 2431_2432delAA - USH2A_000196 Heterozygous PubMed: Jaijo 2010 - - Germline - - - 0 - Jose Maria Millan USH2A - - - - - 13 NM_206933.2:c.2431_2432del - r.(?) p.(Lys811Aspfs*11) Laminin EGF-like 6 (795-846) - - - - - - - - - - - - - - - - - - -
1 Unknown -/- - benign g.216496947G>A g.216323605G>A - - USH2A_000065 Heterozygous PubMed: Jaijo 2010 - rs1805050 Germline - - none 0 - Jose Maria Millan USH2A - - - - - 8 NM_206933.2:c.1419C>T - r.(?) p.(=) Laminin N-terminal (271-517) - - - - - - - - - - - - - - - - - - -
1 Parent #2 +/+ - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Jaijo 2010 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - Jose Maria Millan USH2A - - - - - 2 NM_206933.2:c.100C>T - r.(?) p.(Arg34*) - - - - - - - - - - - - - - - - - - - -
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