Full data view for gene CPOX

Information The variants shown are described using the NM_000097.5 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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     

Treatment     

Panel size     

Owner     
+/. 1 c.32del r.(?) p.(Gly11Alafs*125) Unknown - pathogenic g.98312319del g.98593475del 32delG - CPOX_000007 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - coproporphyria, hereditary - - - - - - - - 0 - - 1 Manuel Mendez
+/. 1 c.32del r.(?) p.(Gly11Alafs*125) Unknown - pathogenic g.98312319del g.98593475del 32delG - CPOX_000007 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - coproporphyria, hereditary - - - - - - - - 0 - - 1 Manuel Mendez
-/. - c.33C>T r.(?) p.(Gly11=) Unknown - benign g.98312316G>A g.98593472G>A CPOX(NM_000097.7):c.33C>T (p.G11=) - CPOX_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165C>T r.(?) p.(Gly55=) Unknown - benign g.98312184G>A g.98593340G>A CPOX(NM_000097.7):c.165C>T (p.G55=) - CPOX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.178C>G r.(?) p.(Arg60Gly) Unknown - VUS g.98312171G>C g.98593327G>C CPOX(NM_000097.7):c.178C>G (p.R60G) - CPOX_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.337C>T r.(?) p.(Leu113=) Unknown - benign g.98312012G>A g.98593168G>A CPOX(NM_000097.7):c.337C>T (p.L113=) - CPOX_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395C>T r.(?) p.(Ala132Val) Unknown - likely benign g.98311954G>A - CPOX(NM_000097.7):c.395C>T (p.A132V) - CPOX_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.717T>A r.(?) p.(Cys239*) Unknown - pathogenic g.98309570A>T g.98590726A>T - - CPOX_000008 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - coproporphyria, hereditary - - - - - - - - 0 - - 1 Manuel Mendez
-/. - c.814A>C r.(?) p.(Asn272His) Unknown - benign g.98307696T>G g.98588852T>G CPOX(NM_000097.7):c.814A>C (p.N272H) - CPOX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.814A>C r.(?) p.(Asn272His) Unknown - benign g.98307696T>G g.98588852T>G CPOX(NM_000097.7):c.814A>C (p.N272H) - CPOX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.814A>C r.(?) p.(Asn272His) Unknown - benign g.98307696T>G g.98588852T>G CPOX(NM_000097.7):c.814A>C (p.N272H) - CPOX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.823T>C r.(?) p.(Trp275Arg) Unknown - pathogenic g.98307687A>G g.98588843A>G - - CPOX_000009 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - coproporphyria, hereditary - - - - - - - - 0 - - 1 Manuel Mendez
-/. - c.880G>A r.(?) p.(Val294Ile) Unknown - benign g.98307630C>T g.98588786C>T CPOX(NM_000097.7):c.880G>A (p.V294I) - CPOX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.980A>G r.(?) p.(His327Arg) Unknown - pathogenic g.98304477T>C g.98585633T>C CPOX(NM_000097.7):c.980A>G (p.H327R) - CPOX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.990A>G r.(?) p.(Glu330=) Unknown - benign g.98304467T>C g.98585623T>C CPOX(NM_000097.7):c.990A>G (p.E330=) - CPOX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.990A>G r.(?) p.(Glu330=) Unknown - benign g.98304467T>C g.98585623T>C CPOX(NM_000097.7):c.990A>G (p.E330=) - CPOX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.990A>G r.(?) p.(Glu330=) Unknown - benign g.98304467T>C g.98585623T>C CPOX(NM_000097.7):c.990A>G (p.E330=) - CPOX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.1006_1008del r.(?) p.(Gly336del) Unknown - pathogenic g.98304453_98304455del g.98585609_98585611del - - CPOX_000010 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - coproporphyria, hereditary - - - - - - - - 0 - - 1 Manuel Mendez
-/. - c.1054C>T r.(?) p.(Arg352Cys) Unknown - benign g.98304403G>A g.98585559G>A CPOX(NM_000097.7):c.1054C>T (p.R352C) - CPOX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1054C>T r.(?) p.(Arg352Cys) Parent #1 - benign g.98304403G>A g.98585559G>A - - CPOX_000002 107 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11921054 Germline - 107/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 107 Mohammed Faruq
-/. - c.1054C>T r.(?) p.(Arg352Cys) Both (homozygous) - benign g.98304403G>A g.98585559G>A - - CPOX_000002 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11921054 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. 5 c.1095C>G r.(?) p.(Tyr365*) Unknown - pathogenic g.98304362G>C g.98585518G>C - - CPOX_000011 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - coproporphyria, hereditary - - - - - - - - 0 - - 1 Manuel Mendez
+/. 5 c.1102del r.(?) p.(Val369*) Unknown - pathogenic g.98304358del g.98585514del - - CPOX_000012 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - coproporphyria, hereditary - - - - - - - - 0 - - 1 Manuel Mendez
?/. - c.1277+9A>G r.(=) p.(=) Unknown - VUS g.98300242T>C - CPOX(NM_000097.7):c.1277+9A>G - CPOX_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1339C>T r.(?) p.(Arg447Cys) Parent #1 - pathogenic g.98299553G>A g.98580709G>A - - CPOX_000016 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28931603 Germline - 12/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 12 Mohammed Faruq
+/. - c.1345C>T r.(?) p.(Pro449Ser) Unknown - pathogenic g.98299547G>A g.98580703G>A CPOX(NM_000097.7):c.1345C>T (p.P449S) - CPOX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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