Full data view for gene FAM161A

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001201543.1 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic g.62066830T>A g.61839695T>A Arg437X - FAM161A_000002 (Founder mutation) PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - - - F - - German - - - - 1 Jacopo Celli
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic g.62066830T>A g.61839695T>A Arg437X - FAM161A_000002 (Founder mutation) PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic g.62066830T>A g.61839695T>A Arg437X - FAM161A_000002 (Founder mutation) PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
+/. - c.1309A>T r.(?) p.(Arg437Ter) Unknown - pathogenic g.62066830T>A g.61839695T>A FAM161A(NM_001201543.1):c.1309A>T (p.R437*), FAM161A(NM_001201543.2):c.1309A>T (p.R437*) - FAM161A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1309A>T r.(?) p.(Arg437Ter) Unknown - pathogenic g.62066830T>A g.61839695T>A FAM161A(NM_001201543.1):c.1309A>T (p.R437*), FAM161A(NM_001201543.2):c.1309A>T (p.R437*) - FAM161A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 24 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 25 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 26 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437*) Parent #1 - likely pathogenic g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 269 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437*) Parent #1 - likely pathogenic g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 270 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. - c.1309A>T r.(?) p.(Arg437*) Unknown - pathogenic g.62066830T>A g.61839695T>A NM_001201543.1:1309A>T (Arg437*) - FAM161A_000002 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5904 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1309A>T r.(?) p.(Arg437*) Unknown - pathogenic g.62066830T>A g.61839695T>A NM_001201543.1:1309A>T (Arg437*) - FAM161A_000002 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5904 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437Ter) Both (homozygous) - likely pathogenic g.62066830T>A - - - FAM161A_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12002960 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437Ter) Unknown - likely pathogenic g.62066830T>A - - - FAM161A_000002 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010307 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 3 c.1309A>T r.(?) p.(Arg437Ter) Parent #1 - pathogenic (recessive) g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
+/. 3 c.1309A>T r.(?) p.(Arg437Ter) Parent #2 - pathogenic (recessive) g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-151-405 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437Ter) Parent #1 - likely pathogenic g.62066830T>A g.61839695T>A - - FAM161A_000002 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 16 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437*) Parent #1 - likely pathogenic g.62066830T>A - c.[1309A>T]+[1567C>G] - FAM161A_000002 - PubMed: O'Sullivan-2012 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: O'Sullivan-2012 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 3 c.1309A>T r.(?) p.(Arg437*) Unknown ACMG pathogenic g.62066830T>A g.61839695T>A FAM161A c.1567C>T, p.(Arg523*), c.1309A>T, p.(Arg437*) - FAM161A_000002 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 136 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) ACMG pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A>T, p.(Arg437*), c.1309A>T, p.(Arg437*) - FAM161A_000002 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 137 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 3 c.1309A>T r.(?) p.(Arg437*) Unknown - likely pathogenic g.62066830T>A g.61839695T>A FAM161A Ex.3 c.1309A>T p.(Arg437*), Ex.3 c.1309A>T p.(Arg437*), ABCA4: p.(Val1433Ile) Ex.29 c.4297G>A - FAM161A_000002 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1058 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Parent #2 - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A>T, p.R437X - FAM161A_000002 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 77 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Parent #1 - likely pathogenic g.62066830T>A g.61839695T>A FAM161A, variant 1: c.1309A>T/p.R437*, variant 2: c.1309A>T/p.R437* - FAM161A_000002 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 808 PubMed: Weisschuh 2020 Filing key number: 323, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Parent #1 - likely pathogenic g.62066830T>A g.61839695T>A FAM161A, variant 1: c.1309A>T/p.R437*, variant 2: c.1309A>T/p.R437* - FAM161A_000002 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1217 PubMed: Weisschuh 2020 Filing key number: 954, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic (recessive) g.62066830T>A - c.1309A>T - FAM161A_000002 - PubMed: Colombo-2020 - rs200691042 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic (recessive) g.62066830T>A - c.1309A>T - FAM161A_000002 - PubMed: Colombo-2020 - rs200691042 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome PubMed: Rose 2015 - - Unknown ? - - - - DNA arraySNP, SEQ-NG - homozygosity mapping, high-throughput sequencing retinal disease GC18398 PubMed: Rose 2015 family GC18398 F - - British - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome PubMed: Rose 2015 - - Germline yes - - - - DNA arraySNP, SEQ-NG - homozygosity mapping, high-throughput sequencing retinal disease GC19423-IV:1 PubMed: Rose 2015 family GC19423 F yes - British - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome PubMed: Rose 2015 - - Germline yes - - - - DNA arraySNP, SEQ-NG - homozygosity mapping, high-throughput sequencing retinal disease GC19423-IV:2 PubMed: Rose 2015 family GC19423 F yes - British - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome PubMed: Rose 2015 - - Germline yes - - - - DNA arraySNP, SEQ-NG - homozygosity mapping, high-throughput sequencing retinal disease GC3796-IV:1 PubMed: Rose 2015 family GC3796 M yes - Pakistani - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 apparent homozygous; parents not tested, there is a possibility of mutation in the hemizygous state with a complete deletion of one copy of FAM161A on the second chromosome PubMed: Rose 2015 - - Germline yes - - - - DNA arraySNP, SEQ-NG - homozygosity mapping, high-throughput sequencing retinal disease GC3796-IV:2 PubMed: Rose 2015 family GC3796 M yes - Pakistani - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P1 PubMed: Van Schil 2015 - M - - Dutch - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P2 PubMed: Van Schil 2015 - M - - Dutch - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P3 PubMed: Van Schil 2015 - F - - Dutch - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P4 PubMed: Van Schil 2015 sister of P5 F - - Dutch - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P5 PubMed: Van Schil 2015 sister of P4 F - - Dutch - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P6 PubMed: Van Schil 2015 - M - - Dutch - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P7 PubMed: Van Schil 2015 - F - - Belgian - - - - 1 LOVD
+?/. - c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - likely pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A4T, p.Arg437* - FAM161A_000002 homozygous; shared haplotype block of 409 kb surrounding the p.(Arg437*) mutation in all patients (founder effect) PubMed: Van Schil 2015 - - Germline yes - - - - DNA arraySNP, ARMS, SEQ - - retinal disease P8 PubMed: Van Schil 2015 - M - - Belgian - - - - 1 LOVD
+/. - c.1309A>T r.(?) p.(Arg437*) Unknown ACMG pathogenic g.62066830T>A g.61839695T>A FAM161A c.1309A>T, p.(Arg437*) - FAM161A_000002 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 40_48 PubMed: Zhu 2022 family 40, individual 48 M - - - - - - - 1 LOVD
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic g.62066830T>A - c.1309A>T - FAM161A_000002 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic g.62066830T>A - c.1309A>T - FAM161A_000002 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic g.62066830T>A - c.1309A>T - FAM161A_000002 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 3 c.1309A>T r.(?) p.(Arg437*) Both (homozygous) - pathogenic g.62066830T>A - c.1309A>T - FAM161A_000002 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.1309A>T r.(?) p.(Arg437Ter) Unknown ACMG pathogenic (recessive) g.62066830T>A g.61839695T>A - - FAM161A_000002 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 36 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1286 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1309A>T r.(?) p.(Arg437Ter) Unknown ACMG pathogenic (recessive) g.62066830T>A g.61839695T>A - - FAM161A_000002 ACMG PM2, PVS1, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1238 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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