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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*] Both (homozygous) - pathogenic g.202494451C>A g.201629728C>A - - TMEM237_000002 - PubMed: Janecke 2004, PubMed: Huang 2011 - - Germline - - - 0 - DNA, RNA SEQ, RT-PCR - - JBTS14 - PubMed: Janecke 2004, PubMed: Huang 2011 deceased F yes Austria - - 0 - - 1 Lijia Huang
+/+ 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*] Both (homozygous) - pathogenic g.202494451C>A g.201629728C>A - - TMEM237_000002 - PubMed: Janecke 2004, PubMed: Huang 2011 - - Germline - - - 0 - DNA, RNA SEQ, RT-PCR - - JBTS14 - PubMed: Janecke 2004, PubMed: Huang 2011 fetus died at 22 weeks - yes Austria - - 0 - - 1 Lijia Huang
+/+ 8i c.677+1G>T r.[560_751del, 554_677del] p.[Phe187_Ala251delinsSer, Arg186*] Both (homozygous) - pathogenic g.202494451C>A g.201629728C>A - - TMEM237_000002 - PubMed: Janecke 2004, PubMed: Huang 2011 - - Germline - - - 0 - DNA, RNA SEQ, RT-PCR - - JBTS14 - PubMed: Janecke 2004, PubMed: Huang 2011 - F yes Austria - - 0 - - 1 Lijia Huang
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