Full data view for gene CPE

Information The variants shown are described using the NM_001873.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
-/. - c.6C>A r.(?) p.(Ala2=) Unknown - benign g.166300379C>A - CPE(NM_001873.4):c.6C>A (p.A2=) - CPE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.54C>G r.(?) p.(Ala18=) Unknown - benign g.166300427C>G - CPE(NM_001873.4):c.54C>G (p.A18=) - CPE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.76_98del r.(?) p.(Glu26Argfs*68) Both (homozygous) ACMG pathogenic (recessive) g.166300449_166300471del g.165379297_165379319del 76_98del (E26RfsX68) - CPE_000013 - PubMed: Alsters 2015 689401 - Germline - - - - - DNA SEQ-NG blood - BDVS Individual A-1 PubMed: Alsters 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother/sibs F yes Sudan - - - - - 1 Moritz Hebebrand
-?/. - c.96G>T r.(?) p.(Ala32=) Unknown - likely benign g.166300469G>T - CPE(NM_001873.4):c.96G>T (p.A32=) - CPE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.180C>T r.(?) p.(Arg60=) Unknown - benign g.166300553C>T - CPE(NM_001873.4):c.180C>T (p.R60=) - CPE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215C>T r.(?) p.(Ala72Val) Unknown - likely benign g.166300588C>T - CPE(NM_001873.4):c.215C>T (p.A72V) - CPE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303G>A r.(?) p.(=) Unknown - likely benign g.166300676G>A - CPE(NM_001873.4):c.303G>A (p.E101=) - CPE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307+13C>T r.(=) p.(=) Unknown - likely benign g.166300693C>T - CPE(NM_001873.4):c.307+13C>T - CPE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307+15C>T r.(=) p.(=) Unknown - likely benign g.166300695C>T - CPE(NM_001873.4):c.307+15C>T - CPE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.361C>T r.(?) p.(Arg121*) Both (homozygous) ACMG pathogenic (recessive) g.166385595C>T g.165464443C>T - - CPE_000014 - PubMed: Bosch 2021 - - Germline yes - - - - DNA SEQ-NG blood - BDVS Individual C-1 PubMed: Bosch 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Syria - - - - - 2 Moritz Hebebrand
+/. - c.361C>T r.(?) p.(Arg121*) Both (homozygous) ACMG pathogenic (recessive) g.166385595C>T g.165464443C>T - - CPE_000014 - PubMed: Bosch 2021 - - Germline yes - - - - DNA SEQ-NG blood - BDVS Individual D-1 PubMed: Bosch 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Egypt - - - - - 1 Moritz Hebebrand
+/. - c.405C>A r.(?) p.(Tyr135*) Both (homozygous) ACMG pathogenic (recessive) g.166385639C>A g.165464487C>A - - CPE_000015 - PubMed: Durmaz 2021 1096917 - Germline yes - - - - DNA SEQ-NG blood - BDVS Individual B-1 PubMed: Durmaz 2021 5-generation family, 3 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 3 Moritz Hebebrand
-?/. - c.417C>T r.(?) p.(Asn139=) Unknown - likely benign g.166385651C>T - CPE(NM_001873.4):c.417C>T (p.N139=) - CPE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.505-3del r.spl? p.? Unknown - benign g.166388837del - CPE(NM_001873.4):c.505-3delT - CPE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.505-3dup r.spl? p.? Unknown - benign g.166388837dup - CPE(NM_001873.4):c.505-3dupT - CPE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.696C>A r.(?) p.(Val232=) Unknown - benign g.166403417C>A - CPE(NM_001873.4):c.696C>A (p.V232=) - CPE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744T>C r.(?) p.(His248=) Unknown - likely benign g.166403465T>C - CPE(NM_001873.4):c.744T>C (p.H248=) - CPE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.994del r.(?) p.(Ser333Alafs*22) Both (homozygous) ACMG pathogenic (recessive) g.166408610del g.165487458del - - CPE_000016 - PubMed: Bosch 2021 - - Germline - - - - - DNA SEQ-NG blood - BDVS Individual E-1 PubMed: Bosch 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 1 Moritz Hebebrand
-?/. - c.1177A>G r.(?) p.(Ile393Val) Unknown - likely benign g.166414386A>G - CPE(NM_001873.4):c.1177A>G (p.I393V) - CPE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1206T>G r.(?) p.(Val402=) Unknown - likely benign g.166414415T>G - CPE(NM_001873.4):c.1206T>G (p.V402=) - CPE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1309G>A r.(?) p.(Val437Ile) Unknown - VUS g.166416806G>A - CPE(NM_001873.4):c.1309G>A (p.V437I) - CPE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386A>G r.(?) p.(=) Unknown - likely benign g.166418717A>G - CPE(NM_001873.4):c.1386A>G (p.E462=) - CPE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1394A>G r.(?) p.(Glu465Gly) Unknown - likely benign g.166418725A>G - CPE(NM_001873.4):c.1394A>G (p.E465G) - CPE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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