Full data view for gene NAGA

Information The variants shown are described using the NM_000262.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.205G>A r.(?) p.(Asp69Asn) Maternal (confirmed) - likely pathogenic (recessive) g.42463888C>T g.42067884C>T - - NAGA_000020 - PubMed: Hamdan 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0049 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.244A>T r.(?) p.(Ile82Phe) Unknown - VUS g.42463849T>A - NAGA(NM_000262.3):c.244A>T (p.(Ile82Phe)) - NAGA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.279G>A r.(?) p.(Pro93=) Unknown - benign g.42463814C>T g.42067810C>T NAGA(NM_000262.3):c.279G>A (p.P93=) - NAGA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280G>A r.(?) p.(Asp94Asn) Unknown - likely benign g.42463813C>T g.42067809C>T NAGA(NM_000262.2):c.280G>A (p.D94N) - NAGA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324C>T r.(?) p.(Tyr108=) Unknown - likely benign g.42463769G>A g.42067765G>A NAGA(NM_000262.2):c.324C>T (p.Y108=) - NAGA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479C>G r.(?) p.(Ser160Cys) Unknown - VUS g.42463140G>C g.42067136G>C NAGA(NM_000262.2):c.479C>G (p.S160C), NAGA(NM_000262.3):c.479C>G (p.(Ser160Cys), p.S160C) - NAGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.479C>G r.(?) p.(Ser160Cys) Unknown - pathogenic g.42463140G>C g.42067136G>C NAGA(NM_000262.2):c.479C>G (p.S160C), NAGA(NM_000262.3):c.479C>G (p.(Ser160Cys), p.S160C) - NAGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.479C>G r.(?) p.(Ser160Cys) Parent #1 - likely pathogenic g.42463140G>C g.42067136G>C - - NAGA_000007 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434532 Germline - 3/2748 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.479C>G r.(?) p.(Ser160Cys) Unknown - likely pathogenic g.42463140G>C g.42067136G>C NAGA(NM_000262.2):c.479C>G (p.S160C), NAGA(NM_000262.3):c.479C>G (p.(Ser160Cys), p.S160C) - NAGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479C>G r.(?) p.(Ser160Cys) Unknown - VUS g.42463140G>C - NAGA(NM_000262.2):c.479C>G (p.S160C), NAGA(NM_000262.3):c.479C>G (p.(Ser160Cys), p.S160C) - NAGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.479C>G r.(?) p.(Ser160Cys) Unknown - pathogenic g.42463140G>C - NAGA(NM_000262.2):c.479C>G (p.S160C), NAGA(NM_000262.3):c.479C>G (p.(Ser160Cys), p.S160C) - NAGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597+18dup r.(=) p.(=) Unknown - benign g.42462700dup g.42066696dup NAGA(NM_000262.3):c.597+18dupC - NAGA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.598-15C>T r.(=) p.(=) Unknown - benign g.42461918G>A g.42065914G>A NAGA(NM_000262.3):c.598-15C>T - NAGA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.622dup r.(?) p.(Ile208Asnfs*7) Paternal (confirmed) - pathogenic (recessive) g.42461879dup g.42065875dup - - NAGA_000021 - PubMed: Hamdan 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0049 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.697G>A r.(?) p.(Val233Met) Parent #1 - VUS g.42461804C>T g.42065800C>T - - NAGA_000024 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat32 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.760-7C>A r.759_760= p.= Unknown ACMG VUS g.42459035G>T g.42063031G>T - - NAGA_000019 - PubMed: He 2022 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood WES ? Fam12 PubMed: He 2022 - - - China - - - - - 1 Johan den Dunnen
+/. - c.791_792del r.(?) p.(Glu264Alafs*72) Unknown - pathogenic (recessive) g.42458996_42458997del - - - NAGA_000018 - PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 Den Hoedt ESHG2020 C02.2, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.838C>A r.(?) p.(Leu280Ile) Unknown - VUS g.42458950G>T g.42062946G>T NAGA(NM_000262.2):c.838C>A (p.L280I) - NAGA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.860G>A r.(?) p.(Arg287His) Unknown - VUS g.42458928C>T g.42062924C>T NAGA(NM_000262.3):c.860G>A (p.R287H) - NAGA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925C>T r.(?) p.(Pro309Ser) Unknown - VUS g.42458863G>A g.42062859G>A NAGA(NM_000262.2):c.925C>T (p.(Pro309Ser)) - NAGA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.937C>T r.(?) p.(Gln313*) Unknown - likely pathogenic g.42458851G>A - NAGA(NM_000262.3):c.937C>T (p.(Gln313*)) - NAGA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943C>T r.(?) p.(Arg315Cys) Unknown - VUS g.42458845G>A - NAGA(NM_000262.3):c.943C>T (p.(Arg315Cys)) - NAGA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.957+4C>G r.spl? p.? Unknown - benign g.42458827G>C g.42062823G>C NAGA(NM_000262.3):c.957+4C>G - NAGA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.973G>A r.(?) p.(Glu325Lys) Unknown - pathogenic g.42457056C>T g.42061052C>T NAGA(NM_000262.2):c.973G>A (p.E325K, p.(Glu325Lys)), NAGA(NM_000262.3):c.973G>A (p.E325K) - NAGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.973G>A r.(?) p.(Glu325Lys) Unknown - pathogenic g.42457056C>T g.42061052C>T NAGA(NM_000262.2):c.973G>A (p.E325K, p.(Glu325Lys)), NAGA(NM_000262.3):c.973G>A (p.E325K) - NAGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.973G>A r.(?) p.(Glu325Lys) Unknown - pathogenic g.42457056C>T g.42061052C>T NAGA(NM_000262.2):c.973G>A (p.E325K, p.(Glu325Lys)), NAGA(NM_000262.3):c.973G>A (p.E325K) - NAGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.973G>A r.(?) p.(Glu325Lys) Unknown - pathogenic g.42457056C>T g.42061052C>T NAGA(NM_000262.2):c.973G>A (p.E325K, p.(Glu325Lys)), NAGA(NM_000262.3):c.973G>A (p.E325K) - NAGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973G>A r.(?) p.(Glu325Lys) Unknown - VUS g.42457056C>T g.42061052C>T NAGA(NM_000262.2):c.973G>A (p.E325K, p.(Glu325Lys)), NAGA(NM_000262.3):c.973G>A (p.E325K) - NAGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.973G>A r.(?) p.(Glu325Lys) Unknown - pathogenic g.42457056C>T g.42061052C>T NAGA(NM_000262.2):c.973G>A (p.E325K, p.(Glu325Lys)), NAGA(NM_000262.3):c.973G>A (p.E325K) - NAGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.973G>A r.(?) p.(Glu325Lys) Parent #1 - likely pathogenic g.42457056C>T g.42061052C>T - - NAGA_000010 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434529 Germline - 18/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
+?/. - c.973G>A r.(?) p.(Glu325Lys) Unknown - VUS g.42457056C>T g.42061052C>T - - NAGA_000010 - PubMed: Palmer 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD D8 PubMed: Palmer 2022 family, 1 affected M - Canada France;white - - - - 1 Johan den Dunnen
?/. - c.973G>A r.(?) p.(Glu325Lys) Paternal (confirmed) - VUS g.42457056C>T g.42061052C>T - - NAGA_000010 - PubMed: Del Rocio Perez Baca 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat23 PubMed: Del Rocio Perez Baca 2023, PubMed: Del Rocio Perez Baca 2024 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1101+7A>C r.(=) p.(=) Unknown - likely benign g.42456921T>G g.42060917T>G NAGA(NM_000262.3):c.1101+7A>C - NAGA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101+10C>T r.(=) p.(=) Unknown - likely benign g.42456918G>A - NAGA(NM_000262.3):c.1101+10C>T - NAGA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1183G>T r.(?) p.(Val395Leu) Unknown - VUS g.42456336C>A - NAGA(NM_000262.3):c.1183G>T (p.(Val395Leu)) - NAGA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209C>T r.(?) p.(Ile403=) Unknown - likely benign g.42456310G>A g.42060306G>A NAGA(NM_000262.3):c.1209C>T (p.I403=) - NAGA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1235G>C r.(?) p.(*412Serext*13) Unknown - VUS g.42456284C>G - NAGA(NM_000262.3):c.1235G>C (p.(Ter412SerextTer13)) - NAGA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*12A>C r.(=) p.(=) Unknown - benign g.42456271T>G g.42060267T>G NAGA(NM_000262.3):c.*12A>C - NAGA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1696C>T r.(=) p.(=) Parent #1 - VUS g.42454587G>A g.42058583G>A - - NAGA_000017 185 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11703233 Germline - 185/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 185 Mohammed Faruq
?/. - c.*1696C>T r.(=) p.(=) Both (homozygous) - VUS g.42454587G>A g.42058583G>A - - NAGA_000017 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11703233 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
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