Unique variants in gene NDUFA10

Information The variants shown are described using the NM_004544.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-4822T>C likely benign r.(?) p.(=) g.240969540A>G - OR6B2(NM_001005853.1):c.307T>C (p.(Phe103Leu)) - OR6B2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4440C>T likely benign r.(?) p.(=) g.240969158G>A - OR6B2(NM_001005853.1):c.689C>T (p.(Ser230Leu)) - OR6B2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4300G>A likely benign r.(?) p.(=) g.240969018C>T - OR6B2(NM_001005853.1):c.829G>A (p.(Val277Met)) - NDUFA10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4294A>G likely benign r.(?) p.(=) g.240969012T>C - OR6B2(NM_001005853.1):c.835A>G (p.(Thr279Ala)) - OR6B2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.71G>T VUS r.(?) p.(Arg24Leu) g.240964648C>A - NDUFA10(NM_004544.3):c.71G>T (p.R24L) - NDUFA10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.105A>G benign r.(?) p.(=) g.240961728T>C - NDUFA10(NM_004544.3):c.105A>G (p.K35=) - NDUFA10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.712G>A likely benign r.(?) p.(Glu238Lys) g.240951071C>T - NDUFA10(NM_004544.3):c.712G>A (p.(Glu238Lys)) - NDUFA10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.745A>G likely benign r.(?) p.(Met249Val) g.240951038T>C - NDUFA10(NM_004544.3):c.745A>G (p.(Met249Val)) - NDUFA10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.771A>G benign r.(?) p.(=) g.240946766T>C - NDUFA10(NM_004544.3):c.771A>G (p.Q257=) - NDUFA10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.844C>T VUS r.(?) p.(Pro282Ser) g.240944673G>A - NDUFA10(NM_004544.3):c.844C>T (p.Pro282Ser) - NDUFA10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.890+6991A>C - - p.(=) g.240937636T>G g.239998219T>G - - NDUFA10_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.999+6344G>A benign r.(=) p.(=) g.240923147C>T - NDUFA10(NM_004544.3):c.999+6344G>A - NDUFA10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.999+6345A>G benign r.(=) p.(=) g.240923146T>C - NDUFA10(NM_004544.3):c.999+6345A>G - NDUFA10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.999+6441G>A benign r.(=) p.(=) g.240923050C>T - NDUFA10(NM_004544.3):c.999+6441G>A - NDUFA10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1000-5del benign r.spl? p.? g.240900612del - NDUFA10(NM_004544.3):c.1000-5delC - NDUFA10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1037A>C likely benign r.(?) p.(Glu346Ala) g.240900566T>G - NDUFA10(NM_004544.3):c.1037A>C (p.(Glu346Ala)) - NDUFA10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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