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.

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #1 - likely pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A, variant 1: c.2802T>G/p.C934W, variant 2: c.8638_8641dup/p.S2881Lfs*9 - USH2A_002150 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 863 PubMed: Weisschuh 2020 Filing key number: 356, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #1 - likely pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641_8642insTATT, p.Ser2881Leufs9 - USH2A_002150 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP19081631 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+?/. - c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #2 - likely pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A c.8638_8633dup, p.Ser2881Leufs*9 - USH2A_002150 error in annotation, interval end position 8633 < interval start position 8638; probably it was c.8638_8641dup as this mutation happens 3 more times in this population and has the same protein position p.(Ser2881Leufs*9); heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18010305 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+?/. - c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #2 - likely pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641_8642insTATT, p.Ser2881Leufs9 - USH2A_002150 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DTP1908095 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+?/. - c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #2 - likely pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641_8642insTATT, p.Ser2881Leufs9 - USH2A_002150 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP19010259 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 43 c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #2 ACMG pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641_8642insTATT, p.S2881fs - USH2A_002150 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1524 PubMed: Zhu 2021 family 153, patient SRF_1524 F - China - - - - - 1 LOVD
+/. 43 c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #2 ACMG pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641_8642insTATT, p.S2881fs - USH2A_002150 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1523 PubMed: Zhu 2021 family 153, patient SRF_1523 M - China - - - - - 1 LOVD
+/. 43 c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Parent #2 ACMG pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641_8642insTATT, p.S2881fs - USH2A_002150 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1804 PubMed: Zhu 2021 family 62, patient SRF_1804 F - China - - - - - 1 LOVD
+?/. - c.8638_8641dup r.(?) p.(Ser2881Leufs*9) - Unknown - likely pathogenic g.216051144_216051147dup g.215877802_215877805dup USH2A (NM_206933.2):c.13465G>A(p.G4489S)/c.8641_8642insTATT(p.S2881Lfs*9) - USH2A_002150 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 128 - - - DNA SEQ-NG-I blood - ? WHP28 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+/. - c.8638_8641dup r.(?) p.(Ser2881LeufsTer9) - Unknown ACMG pathogenic g.216051144_216051147dup g.215877802_215877805dup - - USH2A_002150 ACMG GN005 criteria: PVS1_VS PM2_P PM3_M PP1_M PubMed: Gao, F. J. et al., 2021; PubMed: Sun, Y. et al., 2020; PubMed: Weisschuh, N. et al., 2020 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 43 c.8641_8642insTATT r.(?) p.(Ser2881Leufs*9) - Parent #2 ACMG VUS g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641_8642insTATT, p.Ser2881Phefs*9 - USH2A_002150 error in annotation, mutation is actually c.8638_8641dupTATT and causes p.(Ser2881Leufs*9) and not p.(Ser2881Phefs*9); heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 6 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
?/. 43 c.8641_8642insTATT r.(?) p.(Ser2881Leufs*9) - Parent #2 ACMG VUS g.216051144_216051147dup g.215877802_215877805dup USH2A c.8641-8642insTATT, p.Ser2881Phefs*9 - USH2A_002150 error in annotation, mutation is actually c.8638_8641dupTATT and causes p.(Ser2881Leufs*9) and not p.(Ser2881Phefs*9); heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 7 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
Legend   How to query  

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.