Full data view for gene NMNAT1

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

38 entries on 1 page. Showing entries 1 - 38.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - likely pathogenic g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Coppieters 2015 - - Germline yes - - - - DNA DSDI - - LCA9 26316326-F3 PubMed: Coppieters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Frauke Coppieters
+?/. 5 c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) - likely pathogenic g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Coppieters 2015 - - Germline yes - - - - DNA DSDI - - LCA9 26316326-F4 PubMed: Coppieters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Frauke Coppieters
+/. 5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - pathogenic g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister F no United States Asian - - - - 1 Johan den Dunnen
+/. 5 c.709C>T r.(?) p.(Arg237Cys) Parent #2 - pathogenic g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Perrault 2012, Journal: Perrault 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Perrault 2012, Journal: Perrault 2012 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.709C>T r.(?) p.(Arg237Cys) Parent #1 - pathogenic g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - LCA9 - PubMed: Falk 2012, Journal: Falk 2012 - - - India - - - - - 1 Johan den Dunnen
+?/. 3/5 c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) - pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) - pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - likely pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood WES LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) - likely pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood WES LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - likely pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - likely pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - likely pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - likely pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - - - - - 1 Jinu Han
+?/. 5/5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) - likely pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - - - - Germline yes - - - - DNA SEQ-NG blood WES LCA - - - F no Korea - - - - - 1 Jinu Han
+/. - c.709C>T r.(?) p.(Arg237Cys) Both (homozygous) - pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Han 2017, PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat6;Pat8;Pat8 PubMed: Han 2017, PubMed: Rim 2017 - F - Korea - - - - - 1 LOVD
+/. - c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) - pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Han 2017, PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat5;Pat6;Pat6 PubMed: Han 2017, PubMed: Rim 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Korea - - - - - 1 LOVD
+/. - c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) - pathogenic (recessive) g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Han 2017, PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat4;Pat7;Pat7 PubMed: Han 2017, PubMed: Rim 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Parent #2 - likely pathogenic g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 415 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
?/. - c.709C>T r.(?) p.(Arg237Cys) Parent #1 - VUS g.10042628C>T g.9982570C>T - - NMNAT1_000017 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 120 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. 5 c.709C>T r.(?) p.(Arg237Cys) Unknown - VUS g.10042628C>T g.9982570C>T C709T - NMNAT1_000017 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - 1 Rob W.J. Collin
+/. 5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG pathogenic g.10042628C>T g.9982570C>T c.709C>T - NMNAT1_000017 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE42 PubMed: Hosono 2018 proband, family EYE42 M no Japan Asian - - - - 1 LOVD
+/. 5 c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG pathogenic g.10042628C>T g.9982570C>T c.709C>T - NMNAT1_000017 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE159 PubMed: Hosono 2018 proband, family EYE159 M no Japan Asian - - - - 1 LOVD
+/. 5 c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) ACMG pathogenic g.10042628C>T g.9982570C>T c.709C>T - NMNAT1_000017 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease S132 PubMed: Hosono 2018 proband, family S132 F no Japan Asian - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Unknown ACMG VUS g.10042628C>T - - - NMNAT1_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_SH_0004 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.709C>T r.(?) p.(Arg237Cys) Unknown ACMG VUS g.10042628C>T - - - NMNAT1_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA - - - ? - - - - - - - 1 Jinu Han
+?/. - c.709C>T r.(?) p.(Arg237Cys) Unknown ACMG VUS g.10042628C>T - - - NMNAT1_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_SH_0040 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.709C>T r.(?) p.(Arg237Cys) Unknown ACMG VUS g.10042628C>T - - - NMNAT1_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_GH_0014 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.709C>T r.(?) p.(Arg237Cys) Unknown ACMG VUS g.10042628C>T - - - NMNAT1_000017 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_GH_0044 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) ACMG pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020, PubMed: Moon 2021 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 22;Pat56 PubMed: Surl 2020, PubMed: Moon 2021 - F - Korea - - - - - 1 LOVD
+/. - c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) ACMG pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 23 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 24 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 25 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 26 PubMed: Surl 2020 individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database F - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 27 PubMed: Surl 2020 individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database M - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 28 PubMed: Surl 2020 individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database F - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 29 PubMed: Surl 2020 individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database F - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.10042628C>T g.9982570C>T c.709C>T:p.(Arg237Cys) - NMNAT1_000017 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 30 PubMed: Surl 2020 - F - Korea - - - - - 1 LOVD
+?/. - c.709C>T r.(?) p.(Arg237Cys) Unknown ACMG likely pathogenic g.10042628C>T g.9982570C>T NMNAT1 c.C709T, p.R237C - NMNAT1_000017 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 89 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
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