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.

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

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     

Treatment     

Panel size     

Owner     
?/. - 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
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.