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.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+/+ 48 c.9469C>T r.(?) p.(Gln3157*) Fibronectin type-III 18 (3110-3200) Parent #1 - pathogenic g.215990440G>A g.215817098G>A - - USH2A_000537 Heterozygous; Probable pathogenic PubMed: Nakanishi 2011 - - Germline - 0/130 controls +MseI - - DNA SEQ - - USH2 - PubMed: Nakanishi 2011 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9469C>T r.(?) p.(Gln3157*) Fibronectin type-III 18 (3110-3200) Maternal (confirmed) - pathogenic g.215990440G>A g.215817098G>A - - USH2A_000537 Heterozygous; Mutation PubMed: Huang 2013 - - Germline - - +MseI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Huang 2013 Proband - son of CZ0100120041 M - China - - - - - 1 Anne-Françoise Roux
+/+ 48 c.9469C>T r.(?) p.(Gln3157*) Fibronectin type-III 18 (3110-3200) Parent #1 - pathogenic g.215990440G>A g.215817098G>A - - USH2A_000537 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +MseI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - - - - - - - 1 Anne-Françoise Roux
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #2 ACMG pathogenic (recessive) g.215990440G>A g.215817098G>A - - USH2A_000537 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19891 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - likely pathogenic g.215990440G>A g.215817098G>A - - USH2A_000537 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP061 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. - c.9469C>T r.(?) p.(Gln3157Ter) - Parent #1 - likely pathogenic g.215990440G>A g.215817098G>A - - USH2A_000537 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W99-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.9469C>T r.(?) p.(Gln3157Ter) - Both (homozygous) - likely pathogenic g.215990440G>A g.215817098G>A - - USH2A_000537 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W130-1 PubMed: Huang 2015 - M yes China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Unknown ACMG pathogenic g.215817098G>A g.215817098G>A USH2A c.9469C > T, p.Gln3157Ter, heterozygous - USH2A_000537 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 21 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. 48 c.9469C>T r.(?) p.(Gln3157*) - Unknown - likely pathogenic g.215990440G>A - c.9469C>T,p.Q3157X - USH2A_000537 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 48 c.9469C>T r.(?) p.(Gln3157*) - Parent #1 ACMG likely pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p. Gln3157* - USH2A_000537 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 27 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD1706066 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18060479 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD17061138 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD17123978 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD19022753 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP18080005 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #1 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.GIn3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD181026A PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #2 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD16122951 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157*) - Parent #2 - pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Gln3157* - USH2A_000537 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD19022752 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Parent #1 ACMG pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Q3157* - USH2A_000537 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 967 PubMed: Zhu 2021 family 235, patient 967 M - China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Both (homozygous) ACMG pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Q3157* - USH2A_000537 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42162986 PubMed: Zhu 2021 family 146, patient 42162986 M - China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Both (homozygous) ACMG pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Q3157* - USH2A_000537 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W130-1 PubMed: Zhu 2021 family 242, patient W130-1 M - China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Parent #1 ACMG pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Q3157* - USH2A_000537 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease W99-1 PubMed: Zhu 2021 family 132, patient W99-1 M - China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Parent #2 ACMG pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Q3157* - USH2A_000537 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_34 PubMed: Zhu 2021 family 168, patient AXLM_34 F - China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Parent #2 ACMG pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Q3157* - USH2A_000537 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf32 PubMed: Zhu 2021 family 227, patient USHsrf32 M - China - - - - - 1 LOVD
+/. 48 c.9469C>T r.(?) p.(Gln3157*) - Parent #2 ACMG pathogenic g.215990440G>A g.215817098G>A USH2A c.9469C>T, p.Q3157* - USH2A_000537 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1081 PubMed: Zhu 2021 family 246, patient SRF1081 M - China - - - - - 1 LOVD
+/. - c.9469C>T r.(?) p.(Gln3157Ter) - Unknown ACMG pathogenic g.215990440G>A g.215817098G>A - - USH2A_000537 ACMG GN005 criteria: PVS1_VS PM2_P PM3_M PP1_P PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Meng, X. et al., 2021; PubMed: Jiang, L. et al., 2015; PubMed: Huang, X. F. et al., 2013; PubMed: Sun, Y. et al., 2020; PubMed: Huang, X. F. et al., 2015 - rs772100045 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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