Full data view for gene TMEM237

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001044385.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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     
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 control chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ, SEQ-NG-R - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased M yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 - F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - 1 Lijia Huang
+/+ 2 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Huang 2011 - - Germline - - - 0 - DNA SEQ - - JBTS14 - PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - 1 Lijia Huang
+/. - c.52C>T r.(?) p.(Arg18Ter) Unknown - pathogenic g.202505638G>A g.201640915G>A TMEM237(NM_152388.3):c.28C>T (p.R10*), TMEM237(NM_152388.4):c.28C>T (p.R10*) - TMEM237_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.52C>T r.(?) p.(Arg18Ter) Unknown - pathogenic g.202505638G>A g.201640915G>A TMEM237(NM_152388.3):c.28C>T (p.R10*), TMEM237(NM_152388.4):c.28C>T (p.R10*) - TMEM237_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.52C>T r.(?) p.(Arg18Ter) Unknown - pathogenic g.202505638G>A - TMEM237(NM_152388.3):c.28C>T (p.R10*), TMEM237(NM_152388.4):c.28C>T (p.R10*) - TMEM237_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52C>T r.(?) p.(Arg18Ter) Unknown - VUS g.202505638G>A g.201640915G>A - - TMEM237_000001 - PubMed: Kroes 2016 - - Germline - - - 0 - DNA SEQ-NG-S blood - JBTS1 1-44 Pat19 PubMed: Kroes 2016 - - - - Europe-N - 0 - - 1 Sanne Savelberg
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