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.

20 entries on 1 page. Showing entries 1 - 20.
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AscendingDNA change (cDNA)     

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+/. 3 c.1567C>T r.(?) p.(Arg523*) Both (homozygous) - pathogenic (recessive) g.62066572G>A g.61839437G>A Arg523X - FAM161A_000016 - PubMed: Sharon 2015,PubMed: Bandah-Rozenfeld 2010 - - Germline yes - - - - DNA SEQ - - RPar MOL0276 PubMed: Sharon 2015, PubMed: Bandah-Rozenfeld 2010 1 familie, 3 patients, index case, also his affected brother carries the same mutations M yes (Israel) Syria;Jewish - - - - 3 Jacopo Celli
+/. 3 c.1567C>T r.(?) p.(Arg523*) Paternal (confirmed) - pathogenic (recessive) g.62066572G>A g.61839437G>A visita - FAM161A_000016 - PubMed: Bandah-Rozenfeld 2010, PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ - - RPar MOL0195 PubMed: Bandah-Rozenfeld 2010, PubMed: Kimchi 2018 family, 3 affected M - (Israel) Jewish-Ashkenazi;Tunisia;Jewish - - - - 3 Jacopo Celli
+/. 3 c.1567C>T r.(?) p.(Arg523*) Parent #1 - pathogenic (recessive) g.62066572G>A g.61839437G>A Arg523X - FAM161A_000016 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0303 PubMed: Bandah-Rozenfeld 2010 - M - (Israel) Bulgaria;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1567C>T r.(?) p.(Arg523*) Parent #1 - pathogenic (recessive) g.62066572G>A g.61839437G>A Arg523X - FAM161A_000016 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0446 PubMed: Bandah-Rozenfeld 2010 1 familie, 3 patients F - (Israel) Libya;Morocco;Jewish - - - - 1 Jacopo Celli
+/. - c.1567C>T r.(?) p.(Arg523Ter) Unknown - pathogenic g.62066572G>A g.61839437G>A FAM161A(NM_001201543.1):c.1567C>T (p.R523*), FAM161A(NM_001201543.2):c.1567C>T (p.R523*) - FAM161A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1567C>T r.(?) p.(Arg523*) Both (homozygous) - pathogenic (recessive) g.62066572G>A g.61839437G>A - - FAM161A_000016 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0053 PubMed: Bandah-Rozenfeld 2010, PubMed: Sharon 2019 1 family, 4 patient (affected) F no Libya Jewish - - - - 4 Dror Sharon
+/. - c.1567C>T r.(?) p.(Arg523Ter) Unknown - pathogenic g.62066572G>A g.61839437G>A FAM161A(NM_001201543.1):c.1567C>T (p.R523*), FAM161A(NM_001201543.2):c.1567C>T (p.R523*) - FAM161A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1567C>T r.(?) p.(Arg523Ter) Unknown - pathogenic g.62066572G>A g.61839437G>A FAM161A(NM_001201543.1):c.1567C>T (p.R523*), FAM161A(NM_001201543.2):c.1567C>T (p.R523*) - FAM161A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1567C>T r.(?) p.(Arg523*) Unknown ACMG pathogenic g.62066572G>A - - - FAM161A_000016 - PubMed: Sharon 2019 - - Germline - 18/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 18 IRD families - - Israel - - - - - 18 Global Variome, with Curator vacancy
+/. 3 c.1567C>T r.(?) p.(Arg523*) Parent #1 - pathogenic (recessive) g.62066572G>A g.61839437G>A - - FAM161A_000016 - PubMed: Villanueva 2018 - - Germline yes - - - - DNA SEQ-NG - 233-gene panel retinal disease RD107 PubMed: Villanueva 2018 2-generation family, 4 affected (3F, M) F;M - - - - - - - 4 LOVD
+?/. 3 c.1567C>T r.(?) p.(Arg523*) Parent #1 - likely pathogenic g.62066572G>A g.61839437G>A - - FAM161A_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 27 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 3 c.1567C>T r.(?) p.(Arg523*) Parent #1 - likely pathogenic g.62066572G>A g.61839437G>A - - FAM161A_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 28 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 3 c.1567C>T r.(?) p.(Arg523*) Parent #1 - likely pathogenic g.62066572G>A g.61839437G>A - - FAM161A_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 271 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 3 c.1567C>T r.(?) p.(Arg523Ter) Unknown - likely pathogenic g.62066572G>A g.61839437G>A - - FAM161A_000016 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010307 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 3 c.1567C>T r.(?) p.(Arg523Ter) Parent #1 - pathogenic (recessive) g.62066572G>A g.61839437G>A - - FAM161A_000016 - 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.1567C>T r.(?) p.(Arg523*) Both (homozygous) ACMG pathogenic g.62066572G>A g.61839437G>A c.1567C>T, p.Arg523* - FAM161A_000016 Homozygous PubMed: Birtel 2018 - rs202193201 Germline ? - - - - DNA SEQ-NG blood - retinal disease 33 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+/. 3 c.1567C>T r.(?) p.(Arg523*) Unknown ACMG pathogenic g.62066572G>A g.61839437G>A FAM161A c.1567C>T, p.(Arg523*), c.1309A>T, p.(Arg437*) - FAM161A_000016 - 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.1567C>T r.(?) p.(Arg523*) Unknown - likely pathogenic g.62066572G>A g.61839437G>A FAM161A Ex.3 c.730del p.(Met244*), Ex.3 c.1567C>T p.(Arg523*), IMPG2: Ex.12 c.1483C>T p.(Gln495*) - FAM161A_000016 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1161 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 3 c.1567C>T r.(?) p.(Arg523*) Both (homozygous) - likely pathogenic g.62066572G>A g.61839437G>A FAM161A (NM_001201543; OMIM: 613596): c.1567C>T; p.Arg523* (hom) (RP), MEFV (NM_000243.2; OMIM: 608107): c.2080A>G; p.Met694Val (hom) (FMF) - FAM161A_000016 homozygous PubMed: Ehrenberg 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - ? Family 3 patient 1 PubMed: Ehrenberg 2019 - F no Israel - - - - - 1 LOVD
+?/. - c.1567C>T r.(?) p.(Arg523*) Parent #1 - likely pathogenic g.62066572G>A g.61839437G>A FAM161A, variant 1: c.1567C>T/p.R523*, variant 2: c.1567C>T/p.R523* - FAM161A_000016 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1196 PubMed: Weisschuh 2020 Filing key number: 895, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
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