Full data view for gene NACC1

Information The variants shown are described using the NM_052876.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-3070C>T r.(?) p.(=) Unknown - VUS g.13226207C>T - TRMT1(NM_017722.5):c.527G>A (p.G176E) - NACC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3039G>A r.(?) p.(=) Unknown - VUS g.13226238G>A - TRMT1(NM_001136035.4):c.496C>T (p.(Arg166Cys)) - NACC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3001C>T r.(?) p.(=) Unknown - VUS g.13226276C>T - TRMT1(NM_001136035.4):c.458G>A (p.(Gly153Asp)) - NACC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2773_-2772del r.(?) p.(=) Unknown - VUS g.13226504_13226505del g.13115690_13115691del TRMT1(NM_001136035.4):c.389_390del (p.(Lys130Argfs*3)), TRMT1(NM_017722.4):c.389_390delAA (p.K130Rfs*3), TRMT1(NM_017722.5):c.389_390delAA (p.K130...) - TRMT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2773_-2772del r.(?) p.(=) Unknown - pathogenic g.13226504_13226505del g.13115690_13115691del TRMT1(NM_001136035.4):c.389_390del (p.(Lys130Argfs*3)), TRMT1(NM_017722.4):c.389_390delAA (p.K130Rfs*3), TRMT1(NM_017722.5):c.389_390delAA (p.K130...) - TRMT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2773_-2772del r.(?) p.(=) Unknown - likely pathogenic g.13226504_13226505del - TRMT1(NM_001136035.4):c.389_390del (p.(Lys130Argfs*3)), TRMT1(NM_017722.4):c.389_390delAA (p.K130Rfs*3), TRMT1(NM_017722.5):c.389_390delAA (p.K130...) - TRMT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94G>A r.(?) p.(Val32Met) Unknown - VUS g.13246115G>A g.13135301G>A - - NACC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116A>G r.(?) p.(His39Arg) Unknown - VUS g.13246137A>G g.13135323A>G - - NACC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361del r.(?) p.(Leu121SerfsTer3) Unknown - VUS g.13246382del g.13135568del NACC1(NM_052876.4):c.361delC (p.L121Sfs*3) - NACC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>T r.(?) p.(Asp129Tyr) Unknown - VUS g.13246406G>T - NACC1(NM_052876.4):c.385G>T (p.D129Y) - NACC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.491C>T r.(?) p.(Ser164Leu) Unknown - VUS g.13246512C>T - NACC1(NM_052876.4):c.491C>T (p.S164L) - NACC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Arg298Trp) Unknown - pathogenic g.13246913C>T - - - NACC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Arg298Trp) Unknown ACMG pathogenic (dominant) g.13246913C>T g.13136099C>T - - NACC1_000019 ACMG PS2_vs, PS4, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat59 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
?/. - c.979G>C r.(?) p.(Ala327Pro) Unknown - VUS g.13247078G>C - - - NACC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031C>T r.(?) p.(Pro344Leu) Unknown - VUS g.13247130C>T - NACC1(NM_052876.4):c.1031C>T (p.P344L) - NACC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1120+5G>A r.spl? p.? Unknown - likely benign g.13247224G>A - NACC1(NM_052876.4):c.1120+5G>A - NACC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1129G>A r.(?) p.(Val377Met) Unknown - VUS g.13248093G>A - NACC1(NM_052876.4):c.1129G>A (p.V377M) - NACC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1201C>T r.(?) p.(Arg401Trp) Unknown - VUS g.13248165C>T - NACC1(NM_052876.4):c.1201C>T (p.(Arg401Trp)) - NACC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1227-4C>T r.spl? p.? Unknown - likely benign g.13248288C>T - NACC1(NM_052876.4):c.1227-4C>T - NACC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1384G>A r.(?) p.(Asp462Asn) Unknown - VUS g.13249020G>A g.13138206G>A NACC1(NM_052876.3):c.1384G>A (p.(Asp462Asn)), NACC1(NM_052876.4):c.1384G>A (p.D462N) - NACC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1384G>A r.(?) p.(Asp462Asn) Unknown - likely pathogenic g.13249020G>A - NACC1(NM_052876.3):c.1384G>A (p.(Asp462Asn)), NACC1(NM_052876.4):c.1384G>A (p.D462N) - NACC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386C>T r.(?) p.(Asp462=) Unknown - likely benign g.13249022C>T - NACC1(NM_052876.4):c.1386C>T (p.D462=) - NACC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1402C>T r.(?) p.(Arg468Cys) Unknown - likely pathogenic g.13249038C>T g.13138224C>T - - NACC1_000001 variant candidate for causing ID phenotype PubMed: Gilissen 2014 - - De novo - - - - - DNA SEQ - - ID - PubMed: Gilissen 2014 - ? ? - - - - - - 1 Marianne Vos (LOVD-team)
-/. - c.1462G>A r.(?) p.(Ala488Thr) Unknown - benign g.13249098G>A - NACC1(NM_052876.4):c.1462G>A (p.A488T) - NACC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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