Full data view for gene C1orf127

NOTE: gene name changed from C1orf127 to CIROZ
Information The variants shown are described using the NM_001170754.1 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-1657906_*1806818del r.0? p.0? Unknown - likely pathogenic g.9200001_12700000del g.9100001_12500000del CGH array deletion in Cr1p36.22 involving NMNAT1 gene, - MTHFR_000084 am apparent homozygous NMNAT1 mutation was found, probably on the other allele PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 16 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
+/. - c.56C>T r.(?) p.(Thr19Met) Paternal (confirmed) ACMG pathogenic (recessive) g.11036284G>A g.10976227G>A - - C1orf127_000008 ACMG PM3, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs780189883 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam1PatII1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents, pregnancy terminated M no United Kingdom (Great Britain) - <0d - - - 3 Johan den Dunnen
+/. - c.56C>T r.(?) p.(Thr19Met) Paternal (confirmed) ACMG pathogenic (recessive) g.11036284G>A g.10976227G>A - - C1orf127_000008 ACMG PM3, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs780189883 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam1PatII3 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 sister, pregnancy terminated F no United Kingdom (Great Britain) - <0d - - - 1 Johan den Dunnen
+/. - c.56C>T r.(?) p.(Thr19Met) Paternal (confirmed) ACMG pathogenic (recessive) g.11036284G>A g.10976227G>A - - C1orf127_000008 ACMG PM3, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs780189883 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam1PatII4 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 sister, pregnancy terminated F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) - VUS g.11026450G>A g.10966393G>A - - C1orf127_000005 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat1 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) - VUS g.11026450G>A g.10966393G>A - - C1orf127_000005 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat2 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems; 2-generation family, 1 affected, unaffected heterozygous EP400 carrier parents - - United Arab Emirates - - - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam2PatII1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, affectedsister/brother, unaffected heterozygous carrier parents F yes Lebanon - - - - - 2 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam2PatII2 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 brother M yes Lebanon - - - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam3PatII2 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - 67d - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam4PatI1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, affected mother/3 duagthers, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 4 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam4PatII4 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 daughter F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam4PatII6 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 daughter F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam4PatII7 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 daughter F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam5PatII3 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam6PatII2 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F yes United Arab Emirates - - - - - 3 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam6PatII4 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 nephew M yes United Arab Emirates - - - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WGS HTX Fam6PatII6 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 niece F yes United Arab Emirates - 9m - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam7PatII1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Syria - <0d - - - 1 Johan den Dunnen
+?/. - c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.11026450G>A g.10966393G>A - - C1orf127_000005 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs558323413 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam8PatII4 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - 5m - - - 1 Johan den Dunnen
-?/. - c.489C>T r.(?) p.(Ser163=) Unknown - likely benign g.11024212G>A - C1orf127(NM_001170754.1):c.489C>T (p.S163=) - C1orf127_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.577C>T r.(?) p.(Arg193Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.11017789G>A g.10957732G>A - - C1orf127_000007 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs1429386746 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam1PatII1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents, pregnancy terminated M no United Kingdom (Great Britain) - <0d - - - 3 Johan den Dunnen
+?/. - c.577C>T r.(?) p.(Arg193Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.11017789G>A g.10957732G>A - - C1orf127_000007 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs1429386746 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam1PatII3 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 sister, pregnancy terminated F no United Kingdom (Great Britain) - <0d - - - 1 Johan den Dunnen
+?/. - c.577C>T r.(?) p.(Arg193Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.11017789G>A g.10957732G>A - - C1orf127_000007 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs1429386746 Germline yes - - - - DNA SEQ, SEQ-NG - WES HTX Fam1PatII4 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 sister, pregnancy terminated F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.655G>A r.(?) p.(Val219Ile) Unknown - likely benign g.11017711C>T g.10957654C>T C1orf127(NM_001170754.1):c.655G>A (p.V219I) - C1orf127_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1116G>A r.(?) p.(Ser372=) Unknown - likely benign g.11009855C>T g.10949798C>T C1orf127(NM_001170754.1):c.1116G>A (p.S372=) - C1orf127_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1210del r.(?) p.(Gln404ArgfsTer84) Both (homozygous) ACMG likely pathogenic (recessive) g.11009763del g.10949706del - - C1orf127_000006 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs767673160 Germline yes - - - - DNA SEQ, SEQ-NG - WGS trio HTX Fam9PatII1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Guatemala - - - - 1 Johan den Dunnen
+?/. - c.1210del r.(?) p.(Gln404ArgfsTer84) Both (homozygous) ACMG likely pathogenic (recessive) g.11009763del g.10949706del - - C1orf127_000006 ACMG PVS1, PM2, PP1 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 - rs767673160 Germline yes - - - - DNA SEQ, SEQ-NG - WES trio HTX Fam10PatII5 PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States Guatemala - - - - 1 Johan den Dunnen
-?/. - c.1255G>C r.(?) p.(Asp419His) Unknown - likely benign g.11009716C>G g.10949659C>G C1orf127(NM_001170754.1):c.1255G>C (p.D419H) - C1orf127_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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