Full data view for gene C21orf2

NOTE: gene name changed from C21orf2 to CFAP410
Information The variants shown are described using the NM_004928.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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Panel size     

Owner     
+/. - c.218G>C r.(?) p.(Arg73Pro) Unknown - pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat40 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Paternal (confirmed) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wheway 2015 - - Germline yes - - - - DNA SEQ - WES SRTD FamUCL-111P1/P2 PubMed: Wheway 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M - - white, Europe (north) - - - - 2 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wheway 2015 - - Germline yes - - - - DNA SEQ - - SRTD FamGC4693Pat1/2/3/4/5 PubMed: Wheway 2015 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M - - - 00y00m15d - - - 1 Johan den Dunnen
+?/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: McInerney-Leo 2017 - - Germline - - - - - DNA SEQ - - ? SKDP-144.3 PubMed: McInerney-Leo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Australia - >30y - - - 1 Mariah De Bruin
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wang 2016 - rs140451304 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam8 PubMed: Wang 2016 2-generation family, 3 affected, (2F, M) unaffected heterozygous parents F;M yes Turkey - - - - - 3 LOVD
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9 PubMed: Wang 2016 2-generation family, 2 affected (F, M), unaffected heterozygous parents F - Sweden - - - - - 2 LOVD
+/. - c.218G>C r.(?) p.(Arg73Pro) Parent #1 - pathogenic (recessive) g.45753071C>G g.44333188C>G 21:45753071C>G ENST00000397956.3:c.218G>C (Arg73Pro) - C21orf2_000019 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004999 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G 21:45753071C>G ENST00000397956.3:c.218G>C (Arg73Pro) - C21orf2_000019 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G006005 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG VUS g.45753071C>G g.44333188C>G c.G218C - C21orf2_000019 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM033 PubMed: Zhang 2016 simplex case F - United States Hispanic - - - - 1 LOVD
+/. 4 c.218G>C r.218g>c p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Fadaie 2021 - - Germline yes - - - - DNA SEQ-NG - - retinal disease Pat6 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
+/. 4 c.218G>C r.218g>c p.(Arg73Pro) Parent #1 - pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Fadaie 2021 - - Germline no - - - - DNA SEQ-NG - - retinal disease Pat5 PubMed: Fadaie 2021 - - - Ireland - - - - - 1 Zeinab Fadaie
+?/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) ACMG likely pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 - Tracewska 2021, MolVis in press - - Germline yes 7,189 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 269 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+?/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG likely pathogenic g.45753071C>G g.44333188C>G C21orf2:NM_004928 c.G218C, p.R73P - C21orf2_000019 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-402 PubMed: Rodriguez-Munoz 2020 family fRPN-183, proband F - Spain - - - - - 1 LOVD
+?/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG likely pathogenic g.45753071C>G g.44333188C>G c.218G>C; p.(Arg73Pro) - C21orf2_000019 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-403 PubMed: Rodriguez-Munoz 2020 family fRPN-183, family member M - Spain - - - - - 1 LOVD
+?/. - c.218G>C r.(?) p.(Arg73Pro) Parent #1 - likely pathogenic g.45753071C>G g.44333188C>G CFAP410, variant 1: c.218G>C/p.R73P, variant 2: c.96+6T>A/p.? - C21orf2_000019 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1018 PubMed: Weisschuh 2020 Filing key number: 520, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.218G>C r.(?) p.(Arg73Pro) Unknown ACMG pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 ACMG PM2, PM1_SUPPORTING, PP5_STRONG, BP4, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-803 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) ACMG pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067285 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 4 c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) ACMG pathogenic g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073880 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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