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.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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VIP     

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Owner     
+?/. 42 c.8232G > r.(?) p.(Trp2744Cys) - Unknown - likely pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G > C, p.Trp274 - USH2A_000743 heterozygous PubMed: He 2020 - - Unknown ? - - - - DNA SEQ blood - USH 4 PubMed: He 2020 - F - China - - - - - 1 LOVD
+?/? 42 c.8232G>C r.(?) p.(Trp2744Cys) Fibronectin type-III 14 (2724-2812) Parent #2 ACMG VUS g.216052432C>G g.215879090C>G - - USH2A_000743 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls +HpyCH4V - - DNA PCRdig, SEQ - - RPar - PubMed: Xu 2011 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/? 42 c.8232G>C r.(?) p.(Trp2744Cys) Fibronectin type-III 14 (2724-2812) Parent #2 ACMG VUS g.216052432C>G g.215879090C>G - - USH2A_000743 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls +HpyCH4V - - DNA SEQ - - RPar - PubMed: Xu 2011 Relative F - China - - - - - 1 Anne-Françoise Roux
+?/? 42 c.8232G>C r.(?) p.(Trp2744Cys) Fibronectin type-III 14 (2724-2812) Parent #2 ACMG VUS g.216052432C>G g.215879090C>G - - USH2A_000743 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls +HpyCH4V - - DNA SEQ - - RPar - PubMed: Xu 2011 Relative F - China - - - - - 1 Anne-Françoise Roux
+?/? 42 c.8232G>C r.(?) p.(Trp2744Cys) Fibronectin type-III 14 (2724-2812) Parent #2 ACMG VUS g.216052432C>G g.215879090C>G - - USH2A_000743 Heterozygous; Disease causing PubMed: Xu 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls +HpyCH4V - - DNA SEQ - - RPar - PubMed: Xu 2011 Relative F - China - - - - - 1 Anne-Françoise Roux
+/+ 42 c.8232G>C r.(?) p.(Trp2744Cys) Fibronectin type-III 14 (2724-2812) Parent #1 ACMG VUS g.216052432C>G g.215879090C>G - - USH2A_000743 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - +HpyCH4V - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 42 c.8232G>C r.(?) p.(Trp2744Cys) Fibronectin type-III 14 (2724-2812) Parent #2 ACMG VUS g.216052432C>G g.215879090C>G - - USH2A_000743 Heterozygous; mutation PubMed: Jiang 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - +HpyCH4V - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Unknown ACMG pathogenic (recessive) g.216052432C>G g.215879090C>G - - USH2A_000743 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19985 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic (recessive) g.216052432C>G g.215879090C>G - - USH2A_000743 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19604 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic (recessive) g.216052432C>G g.215879090C>G - - USH2A_000743 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19332 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 ACMG pathogenic (recessive) g.216052432C>G g.215879090C>G - - USH2A_000743 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19987 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.8232G>C r.(?) p.(Trp2744Cys) - Unknown - likely pathogenic g.216052432C>G g.215879090C>G - - USH2A_000743 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP014 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Unknown ACMG pathogenic g.215879090C>G g.215879090C>G USH2A c.8232G > C, p.Trp2744Cys, heterozygous - USH2A_000743 - 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 22 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Unknown - likely pathogenic (recessive) g.216052432C>G - c.8232G>C - USH2A_000743 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 8 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 18 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 30 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Both (homozygous) - pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 homozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD17050879 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Both (homozygous) - pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 homozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD1706090 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 - pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18034505 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 - pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP18126966 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 - pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD18036958 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Unknown - pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DTP1910011 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 - pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.Trp2744Cys - USH2A_000743 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DT19001018 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+?/. - c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 - likely pathogenic g.216052432C>G g.215879090C>G USH2A c.G8232C, p.W2744C - USH2A_000743 heterozygous PubMed: Zhu 2020 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease rpz06-II:1 PubMed: Zhu 2020 - F - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 26460994 PubMed: Zhu 2021 family 220, patient 26460994 F - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1414 PubMed: Zhu 2021 family 42, patient SRF_1414 M - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF463 PubMed: Zhu 2021 family 77, patient SRF463 M - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.G8232C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1621 PubMed: Zhu 2021 family 152, patient SRF_1621 M - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #1 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 single heterozygous variant in a recessive disesase, no second allele PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf3 PubMed: Zhu 2021 family 256, patient USHsrf3 M - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - 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
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF320 PubMed: Zhu 2021 family 66, patient SRF320 F - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_29 PubMed: Zhu 2021 family 147, patient AXLM_29 F - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease USHsrf55 PubMed: Zhu 2021 family 213, patient USHsrf55 F - China - - - - - 1 LOVD
+/. 42 c.8232G>C r.(?) p.(Trp2744Cys) - Parent #2 ACMG pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G>C, p.W2744C - USH2A_000743 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_28 PubMed: Zhu 2021 family 147, patient AXLM_28 F - China - - - - - 1 LOVD
+?/. - c.8232G>C r.(?) p.(Trp2744Cys) - Unknown ACMG likely pathogenic g.216052432C>G g.215879090C>G - - USH2A_000743 ACMG GN005 criteria: PM2_P PM3_VS PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: He, C. et al., 2020; PubMed: Zhu, X. et al., 2020; PubMed: Meng, X. et al., 2021; PubMed: Jiang, L. et al., 2015; PubMed: Sun, Y. et al., 2020 - rs1424639717 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8232G>C r.(?) p.(Trp2744Cys) - Unknown ACMG VUS g.216052432C>G g.215879090C>G - - USH2A_000743 ACMG PM2_P, PM3 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SH325-722 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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