Full data view for gene PPOX

Information The variants shown are described using the NM_000309.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-4540C>T r.(?) p.(=) Unknown - VUS g.161131870C>T g.161162080C>T USP21(NM_001014443.3):c.643C>T (p.R215*) - USP21_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2454A>G r.(?) p.(=) Unknown - VUS g.161133956A>G - USP21(NM_001014443.3):c.1221A>G (p.(Lys407=)) - B4GALT3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-90G>T r.(?) p.(=) Parent #1 - VUS g.161136320G>T g.161166530G>T - - PPOX_000011 27 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115158839 Germline - 27/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 27 Mohammed Faruq
+?/. - c.164A>C r.(?) p.(Glu55Ala) Both (homozygous) - likely pathogenic g.161136966A>C g.161167176A>C - - PPOX_000002 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. - c.175C>T r.(?) p.(Arg59Trp) Unknown - pathogenic g.161136977C>T g.161167187C>T PPOX(NM_000309.4):c.175C>T (p.R59W) - PPOX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209G>A r.(?) p.(Arg70Gln) Unknown - likely benign g.161137011G>A g.161167221G>A PPOX(NM_001122764.3):c.209G>A (p.R70Q) - B4GALT3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.263G>T r.(?) p.(Arg88Leu) Unknown - likely benign g.161137201G>T g.161167411G>T PPOX(NM_001122764.3):c.263G>T (p.R88L) - B4GALT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.363dup r.(?) p.(Phe122LeufsTer22) Unknown - pathogenic g.161137809dup g.161168019dup PPOX(NM_000309.4):c.363dupC (p.F122Lfs*22) - PPOX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.397G>T r.(?) p.(Glu133Ter) Unknown - pathogenic g.161137843G>T g.161168053G>T PPOX(NM_000309.4):c.397G>T (p.E133*) - B4GALT3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.461T>C r.(?) p.(Leu154Pro) Unknown - likely pathogenic g.161137907T>C - - - B4GALT3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471+3G>A r.spl? p.? Unknown - likely benign g.161137920G>A g.161168130G>A PPOX(NM_001122764.3):c.471+3G>A - PPOX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742G>C r.(?) p.(Gly248Arg) Unknown - VUS g.161138908G>C g.161169118G>C PPOX(NM_001350130.1):c.256G>C (p.G86R), PPOX(NM_001350130.2):c.256G>C (p.G86R) - B4GALT3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742G>C r.(?) p.(Gly248Arg) Unknown - VUS g.161138908G>C - PPOX(NM_001350130.1):c.256G>C (p.G86R), PPOX(NM_001350130.2):c.256G>C (p.G86R) - B4GALT3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.767C>G r.(?) p.(Pro256Arg) Unknown - likely benign g.161138933C>G g.161169143C>G PPOX(NM_001122764.3):c.767C>G (p.P256R), PPOX(NM_001350130.2):c.281C>G (p.P94R) - B4GALT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.767C>G r.(?) p.(Pro256Arg) Unknown - likely benign g.161138933C>G - PPOX(NM_001122764.3):c.767C>G (p.P256R), PPOX(NM_001350130.2):c.281C>G (p.P94R) - B4GALT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.849dup r.(?) p.(Ser284Ter) Unknown - pathogenic g.161139491dup g.161169701dup PPOX(NM_000309.4):c.849dupT (p.S284*) - PPOX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857T>C r.(?) p.(Ile286Thr) Unknown - VUS g.161139499T>C - PPOX(NM_000309.5):c.857T>C (p.I286T) - B4GALT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.872T>C r.(?) p.(Leu291Pro) Unknown - pathogenic g.161139699T>C g.161169909T>C PPOX(NM_000309.4):c.872T>C (p.L291P) - PPOX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.911G>A r.(?) p.(Arg304His) Unknown - benign g.161139738G>A g.161169948G>A PPOX(NM_000309.4):c.911G>A (p.R304H), PPOX(NM_001122764.3):c.911G>A (p.R304H) - PPOX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.911G>A r.(?) p.(Arg304His) Unknown - benign g.161139738G>A g.161169948G>A PPOX(NM_000309.4):c.911G>A (p.R304H), PPOX(NM_001122764.3):c.911G>A (p.R304H) - PPOX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.917T>C r.(?) p.(Leu306Pro) Unknown - likely pathogenic g.161139744T>C g.161169954T>C PPOX(NM_000309.4):c.917T>C (p.L306P) - PPOX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936G>A r.(?) p.(Val312=) Unknown - likely benign g.161139763G>A - PPOX(NM_001350130.1):c.450G>A (p.V150=) - B4GALT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.998A>T r.(?) p.(His333Leu) Unknown - likely pathogenic g.161140209A>T g.161170419A>T PPOX(NM_000309.4):c.998A>T (p.H333L) - PPOX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1108_1119del r.(?) p.(Gly370_Trp373del) Both (homozygous) ACMG likely pathogenic g.161140419_161140430del g.161170629_161170640del - - PPOX_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - VP - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1135_1136insATAGTGGCTGTGT r.(?) p.(Ala379Aspfs*6) Unknown - pathogenic g.161140446_161140447insATAGTGGCTGTGT - - - B4GALT3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1248+4A>G r.spl? p.? Unknown - VUS g.161140563A>G - PPOX(NM_001350130.1):c.762+4A>G - B4GALT3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*707C>T r.(=) p.(=) Unknown - VUS g.161141673C>T - B4GALT3(NM_003779.3):c.1115G>A (p.(Arg372His)) - B4GALT3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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