Full data view for gene NDUFA1

Information The variants shown are described using the NM_004541.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.-1304C>T r.(?) p.(=) Unknown - likely benign g.119004571C>T g.119870608C>T RNF113A(NM_006978.2):c.1006G>A (p.(Asp336Asn)) - RNF113A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1061C>T r.(?) p.(=) Unknown - likely benign g.119004814C>T g.119870851C>T RNF113A(NM_006978.2):c.763G>A (p.D255N, p.(Asp255Asn)) - RNF113A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1061C>T r.(?) p.(=) Unknown - likely benign g.119004814C>T g.119870851C>T RNF113A(NM_006978.2):c.763G>A (p.D255N, p.(Asp255Asn)) - RNF113A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1033C>A r.(?) p.(=) Unknown - likely benign g.119004842C>A g.119870879C>A RNF113A(NM_006978.2):c.735G>T (p.E245D) - NDUFA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-895G>C r.(?) p.(=) Unknown - likely benign g.119004980G>C g.119871017G>C RNF113A(NM_006978.2):c.597C>G (p.P199=) - NDUFA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-806T>C r.(?) p.(=) Unknown - likely benign g.119005069T>C - RNF113A(NM_006978.2):c.508A>G (p.M170V) - NDUFA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-562T>C r.(?) p.(=) Unknown - likely benign g.119005313T>C - RNF113A(NM_006978.2):c.264A>G (p.E88=) - NDUFA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-559_-554del r.(?) p.(=) Unknown - VUS g.119005316_119005321del g.119871353_119871358del RNF113A(NM_006978.3):c.265_270delGAGGAA (p.E89_E90del) - NDUFA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-509G>A r.(?) p.(=) Unknown - VUS g.119005366G>A g.119871403G>A RNF113A(NM_006978.2):c.211C>T (p.R71C) - RNF113A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89C>G r.(?) p.(Thr30Ser) Unknown - likely benign g.119005963C>G g.119872000C>G NDUFA1(NM_004541.3):c.89C>G (p.T30S) - NDUFA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.94G>C r.(?) p.(Gly32Arg) Parent #1 - likely pathogenic g.119005968G>C g.119872005G>C - - NDUFA1_000003 functional validation will be performed - - - Germline ? - - 0 - DNA SEQ - - ? - - - - - - - - - - - 1 Marcel Nelen
+?/. 1 c.94G>C r.(?) p.(Gly32Arg) Parent #1 - likely pathogenic g.119005968G>C g.119872005G>C - - NDUFA1_000003 functional validation will be performed - - - Germline ? - - 0 - DNA SEQ - - ? - - - - - - - - - - - 1 Marcel Nelen
-?/. 1 c.94G>C r.(?) p.(Gly32Arg) Unknown - likely benign g.119005968G>C g.119872005G>C - - NDUFA1_000003 - - - rs1801316 Germline - - - 0 - DNA SEQ, SEQ-NG-I - - SCAR - ATX46 - M - France - - 0 - - 1 Claire Guissart
-?/. - c.94G>C r.(?) p.(Gly32Arg) Unknown - likely benign g.119005968G>C g.119872005G>C NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R) - NDUFA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.94G>C r.(?) p.(Gly32Arg) Maternal (confirmed) - likely benign g.119005968G>C g.119872005G>C - - NDUFA1_000003 - Papuc et al., submitted - rs1801316 Germline - - - 0 - DNA SEQ-NG-I blood WES EE 68944 - - M no Switzerland - - 0 - - 1 Anaïs Begemann
-?/. - c.94G>C r.(?) p.(Gly32Arg) Unknown - likely benign g.119005968G>C g.119872005G>C NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R) - NDUFA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94G>C r.(?) p.(Gly32Arg) Parent #1 - benign g.119005968G>C g.119872005G>C - - NDUFA1_000003 7 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801316 Germline - 7/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
-/. - c.94G>C r.(?) p.(Gly32Arg) Unknown - benign g.119005968G>C g.119872005G>C - - NDUFA1_000003 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801316 Germline - 3/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
-/. - c.94G>C r.(?) p.(Gly32Arg) Unknown - benign g.119005968G>C - NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R) - NDUFA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.109A>G r.(?) p.(Arg37Gly) Unknown - VUS g.119007273A>G g.119873310A>G - - NDUFA1_000013 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5119 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+?/. - c.127T>C r.(?) p.(Tyr43His) Maternal (confirmed) ACMG likely pathogenic (recessive) g.119007291T>C g.119873328T>C - - NDUFA1_000011 - PubMed: Helbig 2016 - - Germline - - - 0 - DNA SEQ-NG - WES seizures Pat69 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.141G>C r.(=) p.(=) Parent #1 - VUS g.119007305G>C g.119873342G>C L47L - NDUFA1_000005 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. - c.141G>C r.(?) p.(Leu47=) Unknown - likely benign g.119007305G>C - NDUFA1(NM_004541.3):c.141G>C (p.L47=) - NDUFA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176G>A r.(?) p.(Arg59His) Unknown - VUS g.119007340G>A g.119873377G>A NDUFA1(NM_004541.3):c.176G>A (p.R59H) - NDUFA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.192+165dup r.(?) p.(=) Unknown - likely benign g.119007521dup g.119873558dup - - NDUFA1_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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