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.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

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AscendingDNA change (cDNA)     

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+?/+ 12i c.2167+5G>A r.spl? p.? - Maternal (confirmed) - likely pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 - PubMed: de Castro-Miró 2014 - - Germline - - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - M no Spain - - - - - 1 Marta de Castro-Miró
+?/. 12i c.2167+5G>A r.spl? p.(?) - Unknown - likely pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F no Israel Morocco;Jewish - - - - 2 Dror Sharon
+/. - c.2167+5G>A r.spl? p.? - Unknown - pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 Donor site lost - - - Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#5 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+/+ 12i c.2167+5G>A r.[1972_2167del, 2138_2167del] p.[Ile658Glyfs*33, Gln714_Gly723del] - Parent #2 - pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 Heterozygous; skipping of exon 12, new 5' donor site that involves the deletion of the 30 last nucleotides of exon 12 - p.Gln714_Gly723del (Laminin EGF-like 4) (Jaijo , 2010); E12 skipping (see remarks) PubMed: Najera 2002 - - Germline - 0/200 controls +NspI;+FatI;+NlaIII;+PciI;-HpyCH4IV;-BsaAI; - - DNA minigene, SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 12i c.2167+5G>A r.[(1972_2167del, 2138_2167del)] p.[(Ile658Glyfs*33, Gln714_Gly723del)] - Maternal (confirmed) - pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 Heterozygous PubMed: Baux 2014 - - Germline - - +NspI;+FatI;+NlaIII;+PciI;-HpyCH4IV;-BsaAI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 12i c.2167+5G>A r.[(1972_2167del, 2138_2167del)] p.[(Ile658Glyfs*33, Gln714_Gly723del)] - Paternal (inferred) - pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 Homozygous; Pathogenic PubMed: Avila-Fernandez 2010 - - Germline - - +NspI;+FatI;+NlaIII;+PciI;-HpyCH4IV;-BsaAI; - - DNA PE, SEQ - APEX RPar - PubMed: Avila-Fernandez 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 12i c.2167+5G>A r.[(1972_2167del, 2138_2167del)] p.[(Ile658Glyfs*33, Gln714_Gly723del)] - Maternal (inferred) - pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 Homozygous; Pathogenic PubMed: Avila-Fernandez 2010 - - Germline - - +NspI;+FatI;+NlaIII;+PciI;-HpyCH4IV;-BsaAI; - - DNA PE, SEQ - APEX RPar - PubMed: Avila-Fernandez 2010 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 12i c.2167+5G>A r.([1972_2167del, 2138_2167del]) p.([Ile658Glyfs*33, Gln714_Gly723del]) - Unknown - pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 Heterozygous; skipping of exon 12, new 5' donor site that involves the deletion of the 30 last nucleotides of exon 12 - p.Gln714_Gly723del (Laminin EGF-like 4) (Jaijo , 2010); pathogenic mutation PubMed: Pierrottet 2014 - - Germline - - +NspI;+FatI;+NlaIII;+PciI;-HpyCH4IV;-BsaAI; - - DNA SEQ - - USH2 P55 [F9] PubMed: Pierrottet 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/. - c.2167+5G>A r.spl? p.? - Unknown - pathogenic g.216424240C>T g.216250898C>T - - USH2A_000195 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs771583281 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.2167+5G>A r.spl p.? - Unknown ACMG likely pathogenic g.216424240C>T - - - USH2A_000195 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.2167+5G>A r.spl p.? - Parent #2 - likely pathogenic g.216424240C>T g.216250898C>T IVS12+5G>A - USH2A_000195 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 85 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 12i c.2167+5G>A r.spl? p.? - Both (homozygous) - pathogenic g.216424240C>T - c.2167+5G>A - USH2A_000195 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - yes - Spanish - - - - 1 LOVD
+/. 12i c.2167+5G>A r.spl? p.? - Both (homozygous) - pathogenic g.216424240C>T - c.2167+5G>A - USH2A_000195 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - yes - Spanish - - - - 1 LOVD
+/. - c.2167+5G>A r.(spl?) p.(?) - Unknown - pathogenic g.216424240C>T g.216250898C>T M11: c.2167 + 5G > A; r.(spl?) - USH2A_000195 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood solved retinal disease F (II:3) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+?/. 12i c.2167+5G>A r.(?) p.(?) - Both (homozygous) - likely pathogenic g.216424240C>T g.216250898C>T USH2A IVS12 c.2167+5G>A p.(?), IVS12 c.2167+5G>A p.(?) - USH2A_000195 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0404 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 12i c.2167+5G>A r.spl? p.? - Unknown - likely pathogenic g.216424240C>T - c.2167+5G>A - USH2A_000195 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease E5 PubMed: de Castro-Miró-2014 - - - - - - - - - 1 LOVD
+/. - c.2167+5G>A r.(?) p.([(Ile658GlyfsTer33,Gln714_Gly723del)]) - Paternal (confirmed) ACMG pathogenic g.216424240C>T - - - USH2A_000195 - PubMed: Mansard et al, 2021 - rs771583281 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. 12i c.2167+5G>A r.spl? p.? - Unknown - likely pathogenic g.216424240C>T - c.2167+5G>A - USH2A_000195 - PubMed: Colombo-2020 - rs771583281 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.2167+5G>A r.spl? p.(?) - Parent #2 - pathogenic g.216424240C>T g.216250898C>T USH2A c.2167+5G>A, - - USH2A_000195 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18102634 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 12i c.2167+5G>A r.spl? p.[(Ile658Glyfs*33 Gln714_Gly723del)] - Parent #1 - pathogenic g.216424240C>T - c.2167+5G>A - USH2A_000195 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. 12i c.2167+5G>A r.spl? p.[(Ile658Glyfs*33 Gln714_Gly723del)] - Parent #1 - likely pathogenic g.216424240C>T - c.2167+5G>A - USH2A_000195 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. - c.2167+5G>A r.(1972_2167del,2138_2167del) p.(Ile658GlyfsTer33,Gln714_Gly723del) - Unknown ACMG VUS g.216424240C>T g.216250898C>T - - USH2A_000195 ACMG GN005 criteria: PS3_P PP3_P PubMed: Gao, F. J. et al., 2021; PubMed: Gonzalez-Del Pozo, M. et al., 2018; PubMed: Colombo, L. et al., 2022; PubMed: Mansard, L. et al., 2021; PubMed: Colombo, L. et al., 2021 - rs771583281 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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