Full data view for gene USH2A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #2 - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Paternal (inferred) - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Homozygous; mutation PubMed: Jiang 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Maternal (inferred) - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Homozygous; mutation PubMed: Jiang 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+?/. - c.100_101insT r.(?) p.(Arg34LeufsTer41) - Parent #2 - likely pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W32-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+/. - c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 ACMG pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.[100_101insT];[10582A>G], V1: c.100_101insT, (p.Arg34LeufsTer41) - USH2A_000957 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F036 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 ACMG likely pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.100_101insT, p.Arg34Leufs*41 - USH2A_000957 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 50 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 - pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.100_101insT, p.Arg34Leufs*41 - USH2A_000957 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DP19003141 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 ACMG pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.100_101insT, p.R34Lfs*41 - USH2A_000957 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf11 PubMed: Zhu 2021 family 195, patient USHsrf11 M - China - - - - - 1 LOVD
+/. 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Both (homozygous) ACMG pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.100_101insT, p.R34Lfs*41 - USH2A_000957 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf46 PubMed: Zhu 2021 family 208, patient USHsrf46 F - China - - - - - 1 LOVD
+/. 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 ACMG pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.100_101insT, p.R34Lfs*41 - USH2A_000957 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf18 PubMed: Zhu 2021 family 196, patient USHsrf18 F - China - - - - - 1 LOVD
+/. 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 ACMG pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.100_101insT, p.R34Lfs*41 - USH2A_000957 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf60 PubMed: Zhu 2021 family 215, patient USHsrf60 M - China - - - - - 1 LOVD
+/. 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #2 ACMG pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.100_101insT, p.R34Lfs*41 - USH2A_000957 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W32-1 PubMed: Zhu 2021 family 131, patient W32-1 M - China - - - - - 1 LOVD
+/. - c.100_101insT r.(?) p.(Arg34LeufsTer41) - Parent #1 - pathogenic g.216595578_216595579insA g.216422236_216422237insA USH2A c.[100_101insT];[10582A>G]; p.(Arg34LeufsTer41) - USH2A_000957 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F036 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.100_101insT r.(?) p.(Arg34LeufsTer41) - Unknown ACMG pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 ACMG GN005 criteria: PVS1_VS PM2_P PM3_M PubMed: Gao, F. J. et al., 2021; PubMed: Meng, X. et al., 2021; PubMed: Huang, L. et al., 2018; PubMed: Jiang, L. et al., 2015; PubMed: Huang, X. F. et al., 2015 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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