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.

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

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 37i_56i c.7121-8313_11048-962delins12 r.(7121_11048del) p.(Val2374_Gly3683del) - Both (homozygous) ACMG pathogenic g.215934147_216116450delinsN[12] - - - USH2A_002109 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W02-128 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+/. 37i_56i c.7121-8313_11048-962delins12 r.(7121_11048del) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delinsN[12] - - - USH2A_002109 - Journal: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease W02-117 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+/. 37i_56i c.7121-8313_11048-962delins12 r.(7121_11048del) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delinsN[12] - - - USH2A_002109 - Journal: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease W02-118 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+/. 37i_56i c.7121-8313_11048-962delins12 r.(7121_11048del) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delinsN[12] - - - USH2A_002109 - Journal: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease W02-125 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+/. 37i_56i c.7121-8313_11048-962delins12 r.(7121_11048del) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delinsN[12] - - - USH2A_002109 - Journal: Reurink 2021 - - Germline no - - - - DNA SEQ-NG - gene panel retinal disease W02-440 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+/. - c.7121-8313_11048-962delins12 r.(?) p.(Val2374_Gly3683del) - Both (homozygous) ACMG pathogenic g.215934147_216116450delins12 g.215760805_215943108delins12 USH2A c.7121-8313_11048-962delins12, p.(Val2374_Gly3683del) - USH2A_002109 error in annotation,this change has 12 unknown inserted nucleotides; heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W02-128 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. - c.7121-8313_11048-962delins12 r.(?) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delins12 g.215760805_215943108delins12 USH2A c.7121-8313_11048-962delins12, p.(Val2374_Gly3683del) - USH2A_002109 error in annotation,this change has 12 unknown inserted nucleotides; heterozygous PubMed: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W02-117 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. - c.7121-8313_11048-962delins12 r.(?) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delins12 g.215760805_215943108delins12 USH2A c.7121-8313_11048-962delins12, p.(Val2374_Gly3683del) - USH2A_002109 error in annotation,this change has 12 unknown inserted nucleotides; heterozygous PubMed: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W02-118 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. - c.7121-8313_11048-962delins12 r.(?) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delins12 g.215760805_215943108delins12 USH2A c.7121-8313_11048-962delins12, p.(Val2374_Gly3683del) - USH2A_002109 error in annotation,this change has 12 unknown inserted nucleotides; heterozygous PubMed: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W02-125 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+/. - c.7121-8313_11048-962delins12 r.(?) p.(Val2374_Gly3683del) - Parent #2 ACMG pathogenic g.215934147_216116450delins12 g.215760805_215943108delins12 USH2A c.7121-8313_11048-962delins12, p.(Val2374_Gly3683del) - USH2A_002109 error in annotation,this change has 12 unknown inserted nucleotides; heterozygous PubMed: Reurink 2021 - - Unknown ? - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W02-440 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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