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.

18 entries on 1 page. Showing entries 1 - 18.
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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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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 Heterozygous PubMed: Lenassi 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Eva Lenassi
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ-NG - - HL 19395 PubMed: Sun 2018 family - no China - - 0 - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ-NG - - HL 19399 PubMed: Sun 2018 sporadic case - no China - - 0 - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ - - HL 19954 PubMed: Sun 2018 sporadic case - no China - - 0 - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ - - HL 73036 PubMed: Sun 2018 family - no China - - 0 - - 1 LOVD
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Both (homozygous) ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ-NG - - HL 73061 PubMed: Sun 2018 family - no China - - 0 - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown ACMG pathogenic g.216595579_216595580insA g.216422237_216422238insA NM_206933.2:c.99_100insT, NP_996816.2:p.(Arg34SerfsTer41), NC_000001.10:g.216595579_216595580insA - USH2A_000889 - PubMed: Wang 2018 - - Germline ? - - 0 - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016122601 PubMed: Wang 2018 - M ? China Han Chinese - 0 - - 1 LOVD
+?/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - likely pathogenic g.216595579_216595580insA g.216422237_216422238insA USH2A (NM_206933.2):c.9958G>T(p.G3320C)/c.99_100insT(p.R34Sfs*41) - USH2A_000889 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 129 - 0 - DNA SEQ-NG-I blood - ? WHP29 PubMed: Sun 2018 - F - China - - 0 - - 1 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - 0 - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - 0 - - 3 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - F - China Chinese - 0 - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - 0 - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - F - China Chinese - 0 - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - 0 - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - 0 - - 2 LOVD
+/. 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA - c.99_100insT - USH2A_000889 - PubMed: Fu-2013 - - Germline - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - F - China Chinese - 0 - - 2 LOVD
+?/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - likely pathogenic g.216595579_216595580insA g.216422237_216422238insA c.99_100insT, p.Ser33Serfs42 - USH2A_000889 heterozygous, error in annotation:c.1354_1355insT causes p.(Arg34Serfs*41) instead of p.(Ser33Serfs42) PubMed: Gao 2019 - - Germline ? - - 0 - DNA SEQ-NG - - retinal disease RD18184144_B PubMed: Gao 2019 - ? - China - - 0 - - 1 LOVD
+?/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Paternal (confirmed) - likely pathogenic g.216595579_216595580insA g.216422237_216422238insA c.99_100insT, p.(R34Sfs41) - USH2A_000889 - PubMed: Li 2019 - - Germline yes - - 0 - DNA SEQ-NG, SEQ blood panel containing 168 deafness genes, low-coverage WGS retinal disease Case 3 PubMed: Li 2019 - M no - - - 0 - - 1 LOVD
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