Full data view for gene NMNAT1

Information The variants shown are described using the NM_022787.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Paternal (confirmed) - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012, OMIM:var0005 - rs142968179 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - LCA9 - PubMed: Koenekoop 2012; Journal: Koenekoop 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother/sister M no Canada French >13y - - - 1 Johan den Dunnen
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.619C>T r.(?) p.(Arg207Trp) Unknown - likely pathogenic g.10042538C>T g.9982480C>T NMNAT1(NM_001297778.1):c.619C>T (p.R207W) - NMNAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.619C>T r.(?) p.(Arg207Trp) Unknown - likely pathogenic g.10042538C>T g.9982480C>T NMNAT1(NM_001297778.1):c.619C>T (p.R207W) - NMNAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - likely pathogenic (recessive) g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs142968179 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC05012 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #1 - likely pathogenic (recessive) g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs142968179 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC06499 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.619C>T r.(?) p.(Arg207Trp) Parent #1 - likely pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 415 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.619C>T r.(?) p.(Arg207Trp) Parent #2 - likely pathogenic g.10042538C>T g.9982480C>T - - NMNAT1_000023 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 413 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.619C>T r.(?) p.(Arg207Trp) Parent #1 - likely pathogenic g.10042538C>T g.9982480C>T c.C619T p.R207W - NMNAT1_000023 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam21 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+/. - c.619C>T r.(?) p.(Arg207Trp) Parent #1 - pathogenic g.10042538C>T g.9982480C>T NMNAT1 gene:c.[619C?>?T]; [769G?>?A], p.[Arg207Tyr]; [Glu257Lys] - NMNAT1_000023 error in annotation, c.619C>T causes p.(Arg207Trp) and not p.(Arg207Tyr) PubMed: Ruberto 2020 - - Germline ? - - - - DNA SEQ-NG - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 1 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
+?/. 5 c.619C>T r.(?) p.(Arg207Trp) Parent #2 - likely pathogenic g.10042538C>T - c.619C>T (p.R207W) - NMNAT1_000023 - - - - Germline yes - - - - DNA SEQ, PCR peripheral blood - retinal disease 6 PubMed: Siemiatkowska-2014 - M - - Dutch - - - - 1 LOVD
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