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.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

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Owner     
+/. - c.1354_1355del r.(?) p.(Thr452Serfs*3) Both (homozygous) ACMG pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A c.1355_1356delCA, p.(Thr452Serfs*3) - FAM161A_000017 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.011 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0786 PubMed: Bandah-Rozenfeld 2010 - M - (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Maternal (confirmed) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - 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.1355_1356del r.(?) p.(Thr452Serfs*3) Parent #2 - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0303 PubMed: Bandah-Rozenfeld 2010 - M - (Israel) Bulgaria;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Parent #2 - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - 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
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0139 PubMed: Bandah-Rozenfeld 2010 1 familie, 2 patients, index case, also her affected sister carries the same mutations F yes (Israel) Morocco;Jewish - - - - 2 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0284 PubMed: Bandah-Rozenfeld 2010 - F - (Israel) Jewish-Ashkenazi - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0286 PubMed: Bandah-Rozenfeld 2010 - F - (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0352 PubMed: Bandah-Rozenfeld 2010 - M - (Israel) Libya;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0526 PatII2 PubMed: Bandah-Rozenfeld 2010 affected sister F - (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0526PatII1 PubMed: Bandah-Rozenfeld 2010 1 familie, 2 patients, also his affected sister carries the same mutations M - (Israel) Morocco;Jewish - - - - 2 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0570 PubMed: Bandah-Rozenfeld 2010 - F - (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0672 PubMed: Bandah-Rozenfeld 2010 - F - (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0696 PubMed: Bandah-Rozenfeld 2010 family, 2 patients, index case, also his affected sister M - (Israel) Morocco;Jewish - - - - 2 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0740PatII1 PubMed: Bandah-Rozenfeld 2010 family, 2 patients, index case, also his affected sister M - (Israel) Morocco;Jewish - - - - 2 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0740PatII2 PubMed: Bandah-Rozenfeld 2010 affected sister F - (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0766FamV2 PubMed: Bandah-Rozenfeld 2010 - M yes (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0766PatV1 PubMed: Bandah-Rozenfeld 2010 - F yes (Israel) Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar MOL0766PatIV3 PubMed: Bandah-Rozenfeld 2010 family, 4 patients, cousin of V:1 & 2 F yes (Israel) Morocco;Jewish - - - - 4 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar TB21PatVI3 PubMed: Bandah-Rozenfeld 2010 family, 4 affected M - Israel Morocco;Jewish - - - - 4 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar TB21PatV2 PubMed: Bandah-Rozenfeld 2010 PatV2 M yes Israel Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del 1355_6delCA, Thr452SerfsX3 - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010 - - Germline - - - - - DNA SEQ - - RPar TB21PatV2 PubMed: Bandah-Rozenfeld 2010 PatV2 F yes Israel Morocco;Jewish - - - - 1 Jacopo Celli
+/. 3 c.1355_1356del r.(1355_1356del) p.(Thr452Serfs*3) Both (homozygous) - pathogenic g.62066784_62066785del g.61839649_61839650del - - FAM161A_000017 - PubMed: Bandah-Rozenfeld 2010, PubMed: Kimchi 2018 - - Germline - - - - - DNA PCR - - RP82 MOL0100PatII1/2 PubMed: Bandah-Rozenfeld 2010, PubMed: Kimchi 2018 family, 2 affected (F, M) F;M - Morocco Jewish - - - - 2 Dror Sharon
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Unknown - pathogenic g.62066784_62066785del g.61839649_61839650del - - FAM161A_000017 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0878 PubMed: Sharon 2019 family M no Israel Jewish - - - - 1 Dror Sharon
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Unknown ACMG pathogenic g.62066784_62066785del - - - FAM161A_000017 - PubMed: Sharon 2019 - - Germline - 66/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 66 IRD families - - Israel - - - - - 66 Global Variome, with Curator vacancy
+/. - c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del - 1355_6delCA (Thr452Serfs*3) - FAM161A_000017 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease CHRD4311 PubMed: Kimchi 2018 - - - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del - 1355_6delCA (Thr452Serfs*3) - FAM161A_000017 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ - - retinal disease CHRD5160 PubMed: Kimchi 2018 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+?/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic (recessive) g.62066784_62066785del g.61839649_61839650del - - FAM161A_000017 - PubMed: Bryant 2018 - rs397704718 Germline - - - - - DNA SEQ-NG - WES retinal disease JB38 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Parent #2 - likely pathogenic g.62066784_62066785del g.61839649_61839650del 1354_1355delAC - FAM161A_000017 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 28 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - pathogenic (recessive) g.62066784_62066785del - 1355_6delCA - FAM161A_000017 - PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 66/2420 IRD families - - - DNA SEQ - - retinal disease MOL0228 PubMed: Sharon 2019 family - - Israel Morocco;Jewish - - - - 1 Global Variome, with Curator vacancy
+?/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3) - FAM161A_000017 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1921 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3) - FAM161A_000017 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1960 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3) - FAM161A_000017 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2082 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A Ex.3 c.1355_1356del p.(Thr452Serfs*3), Ex.3 c.1355_1356del p.(Thr452Serfs*3) - FAM161A_000017 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2489 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 3 c.1355_1356del r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A (NM_001201543; OMIM: 613596): c.1355_1356del; p.Thr452Serfs*3 (hom) (RP), TMC1 (NM_138691; OMIM: 606706): c.1939T>C; p.Ser647Pro (hom) (HL) - FAM161A_000017 homozygous PubMed: Ehrenberg 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - ? Family 1 patient 1 PubMed: Ehrenberg 2019 - F yes Israel - - - - - 1 LOVD
+?/. 3 c.1355_1356delCA r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A c.1355_6delCA, p.Thr452SerfsX3 - FAM161A_000017 homozygous PubMed: Venturini 2014 - - Germline yes - - - - DNA SEQ - - retinal disease 003-161 PubMed: Venturini 2014 - F - - Jewish (European) - - - - 1 LOVD
+?/. 3 c.1355_1356delCA r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A c.1355_6delCA, p.Thr452SerfsX3 - FAM161A_000017 homozygous PubMed: Venturini 2014 - - Germline yes - - - - DNA SEQ - - retinal disease 003-257 PubMed: Venturini 2014 - F - - Jewish (Moroccan) - - - - 1 LOVD
+?/. 3 c.1355_1356delCA r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A c.1355_6delCA, p.Thr452SerfsX3 - FAM161A_000017 homozygous PubMed: Venturini 2014 - - Germline yes - - - - DNA SEQ - - retinal disease 012-001 PubMed: Venturini 2014 - F - - Jewish (European) - - - - 1 LOVD
+?/. 3 c.1355_1356delCA r.(?) p.(Thr452Serfs*3) Both (homozygous) - likely pathogenic g.62066784_62066785del g.61839649_61839650del FAM161A c.1355_6delCA, p.Thr452SerfsX3 - FAM161A_000017 homozygous PubMed: Venturini 2014 - - Germline yes - - - - DNA SEQ - - retinal disease 121-385 PubMed: Venturini 2014 - M - - Caucasian - - - - 1 LOVD
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