Unique variants in the NDUFA1 gene

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

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-1304C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - c.-1061C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-1033C>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-895G>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-806T>C r.(?) p.(=) - likely benign g.119005069T>C - RNF113A(NM_006978.2):c.508A>G (p.M170V) - NDUFA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-562T>C r.(?) p.(=) - likely benign g.119005313T>C - RNF113A(NM_006978.2):c.264A>G (p.E88=) - NDUFA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-559_-554del r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.-509G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.89C>G r.(?) p.(Thr30Ser) - 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 - - - - - VKGL-NL_Rotterdam
+?/., -/., -?/. 9 1 c.94G>C r.(?) p.(Gly32Arg) - benign, likely benign, likely pathogenic 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 3 homozygous; Clinindb (India), 7 heterozygous; Clinindb (India), 2 more items Papuc et al., submitted, PubMed: Narang 2020, Journal: Narang 2020 - rs1801316 CLASSIFICATION record, Germline ? 3/2790 individuals, 7/2790 individuals - - - Marcel Nelen, Claire Guissart, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, Anaïs Begemann, Mohammed Faruq
?/. 1 2 c.109A>G r.(?) p.(Arg37Gly) - VUS g.119007273A>G g.119873310A>G - - NDUFA1_000013 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.127T>C r.(?) p.(Tyr43His) ACMG likely pathogenic (recessive) g.119007291T>C g.119873328T>C - - NDUFA1_000011 - PubMed: Helbig 2016 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.141G>C r.(=), r.(?) p.(=), p.(Leu47=) - likely benign, VUS g.119007305G>C g.119873342G>C L47L, NDUFA1(NM_004541.3):c.141G>C (p.L47=) - NDUFA1_000005 recurrent, found 3 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 3/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 1 - c.176G>A r.(?) p.(Arg59His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 2i c.192+165dup r.(?) p.(=) - likely benign g.119007521dup g.119873558dup - - NDUFA1_000004 - - - - Germline - - - - - Yu Sun
Legend   How to query