Full data view for gene NDUFV1

Information The variants shown are described using the NM_007103.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.143G>A r.(?) p.(Arg48His) Unknown - VUS g.67375937G>A g.67608466G>A NDUFV1(NM_007103.3):c.143G>A (p.R48H) - NDUFV1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.166T>C r.(?) p.(Ser56Pro) Unknown - VUS g.67376033T>C - NDUFV1(NM_007103.3):c.166T>C (p.S56P) - NDUFV1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176G>A r.(?) p.(Arg59Gln) Unknown - VUS g.67376043G>A - NDUFV1(NM_007103.3):c.176G>A (p.R59Q) - NDUFV1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Asn116=) Unknown - likely benign g.67376944C>T - NDUFV1(NM_007103.3):c.348C>T (p.N116=) - NDUFV1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.365C>T r.(?) p.(Pro122Leu) Unknown ACMG VUS g.67376961C>T - 338C>T - NDUFV1_000015 - PubMed: Lieber 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat1004 PubMed: Lieber 2013 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.383G>T r.(?) p.(Arg128Leu) Maternal (confirmed) - pathogenic g.67376979G>T g.67609508G>T - - NDUFV1_000007 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat10 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
?/. - c.452C>T r.(?) p.(Ala151Val) Unknown - VUS g.67377048C>T - NDUFV1(NM_007103.4):c.452C>T (p.(Ala151Val)) - NDUFV1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.499del r.(?) p.(Ser167Profs*15) Parent #2 ACMG likely pathogenic (recessive) g.67377095del - 472delT - NDUFV1_000016 - PubMed: Lieber 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat1004 PubMed: Lieber 2013 - F - United States - - - - - 1 Johan den Dunnen
?/. - c.549C>T r.(?) p.(=) Unknown - VUS g.67377890C>T - NDUFV1(NM_007103.4):c.549C>T (p.(Gly183=)) - NDUFV1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.595C>T r.(?) p.(Arg199Cys) Parent #1 - likely pathogenic g.67377936C>T g.67610465C>T - - NDUFV1_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201289242 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.607G>A r.(?) p.(Ala203Thr) Unknown - likely pathogenic g.67377948G>A - - - NDUFV1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.733G>A r.(?) p.(Val245Met) Paternal (confirmed) - pathogenic g.67378498G>A g.67611027G>A - - NDUFV1_000008 high genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat10 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
?/. - c.923C>A r.(?) p.(Thr308Lys) Unknown - VUS g.67378883C>A g.67611412C>A NDUFV1(NM_007103.4):c.923C>A (p.T308K) - NDUFV1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 7 c.929G>T r.(?) p.(Gly310Val) Unknown - likely pathogenic g.67378889G>T g.67611418G>T - - NDUFV1_000001 - - - - Germline - - - - - DNA DSCA Blood - LS - - - M no United Kingdom (Great Britain) white - - - - 1 Robert McFarland
-?/. - c.966G>A r.(?) p.(Ser322=) Unknown - likely benign g.67378926G>A - NDUFV1(NM_007103.3):c.966G>A (p.S322=) - NDUFV1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971C>T r.(?) p.(Thr324Ile) Unknown - VUS g.67378931C>T - NDUFV1(NM_001166102.1):c.944C>T (p.(Thr315Ile)) - NDUFV1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.976C>G r.(?) p.(Leu326Val) Unknown - likely benign g.67378936C>G - NDUFV1(NM_007103.3):c.976C>G (p.L326V) - NDUFV1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>A r.(?) p.(Asp340Asn) Unknown - VUS g.67378978G>A - NDUFV1(NM_007103.3):c.1018G>A (p.D340N) - NDUFV1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1022C>T r.(?) p.(Ala341Val) Unknown - pathogenic g.67378982C>T - NDUFV1(NM_007103.4):c.1022C>T (p.(Ala341Val)) - NDUFV1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1065C>T r.(?) p.(Ile355=) Unknown - likely benign g.67379025C>T g.67611554C>T NDUFV1(NM_007103.3):c.1065C>T (p.I355=) - NDUFV1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073A>G r.(?) p.(Asp358Gly) Unknown - VUS g.67379033A>G - NDUFV1(NM_007103.4):c.1073A>G (p.(Asp358Gly)) - NDUFV1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 7 c.1080G>A r.(spl?) p.(?) Unknown - likely pathogenic g.67379040G>A g.67611569G>A - - NDUFV1_000002 - - - - Germline - - - - - DNA DSCA Blood - LS - - - M no United Kingdom (Great Britain) white - - - - 1 Robert McFarland
+/. - c.1156C>T r.(?) p.(Arg386Cys) Both (homozygous) - pathogenic g.67379443C>T g.67611972C>T R386C - NDUFV1_000026 - PubMed: Legati 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - mitochondrial NGSP109 PubMed: Legati 2016 - M - - - - - - - 1 Daniele Ghezzi
-?/. - c.1162+10G>A r.(=) p.(=) Unknown - likely benign g.67379459G>A - NDUFV1(NM_007103.4):c.1162+10G>A - NDUFV1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1213C>T r.(?) p.(Arg405Trp) Unknown - VUS g.67379641C>T - NDUFV1(NM_007103.4):c.1213C>T (p.(Arg405Trp)) - NDUFV1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1268C>T r.(?) p.(Thr423Met) Both (homozygous) ACMG pathogenic g.67379696C>T g.67612225C>T - - NDUFV1_000003 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MC1DN - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1268C>T r.(?) p.(Thr423Met) Unknown - pathogenic g.67379696C>T g.67612225C>T - - NDUFV1_000003 - - - - Germline ? - - - - DNA SEQ - - mitochondrial respiratory chain deficiency - - - F - - - - - - - 1 Fabian Baertling
?/. - c.1312C>A r.1312c>a p.Leu438Met Unknown - VUS g.67379846C>A g.67612375C>A - - NDUFV1_000021 - PubMed: Bournazos 2022 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA whole blood duo WES ? A085 PubMed: Bournazos 2022 family, 2 affected (F, M) - - Australia - - - - - 2 Johan den Dunnen
?/. - c.1312C>A r.(?) p.(Leu438Met) Unknown - VUS g.67379846C>A - NDUFV1(NM_007103.4):c.1312C>A (p.(Leu438Met)) - NDUFV1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1332G>A r.(?) p.(Pro444=) Unknown - likely benign g.67379866G>A - NDUFV1(NM_007103.3):c.1332G>A (p.P444=) - NDUFV1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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