Full data view for gene TMEM216

Information The variants shown are described using the NM_016499.5 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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Consanguinity     

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VIP     

Data_av     

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Panel size     

Owner     
+/? 4 c.158T>G - r.(?) p.(Leu53Arg) Paternal (inferred) g.61165357T>G - T341G, L114R - TMEM216_000005 - PubMed: Valente 2010 - - Unknown - - - 0 - DNA MCA - - MKS-2 - PubMed: Roume 1998 - M - - Tunisian - 0 - - 1 -
+/? 4 c.158T>G - r.(?) p.(Leu53Arg) Maternal (inferred) g.61165357T>G - T341G, L114R - TMEM216_000005 - PubMed: Valente 2010 - - Unknown - - - 0 - DNA MCA - - MKS-2 - PubMed: Roume 1998 - M - - Tunisian - 0 - - 1 -
+/? 4 c.158T>G - r.(?) p.(Leu53Arg) Paternal (inferred) g.61165357T>G - T341G, L114R - TMEM216_000005 - PubMed: Valente 2010 - - Unknown - - - 0 - DNA MCA - - MKS-2 - PubMed: Roume 1998 - F - - Tunisian - 0 - - 1 -
+/? 4 c.158T>G - r.(?) p.(Leu53Arg) Maternal (inferred) g.61165357T>G - T341G, L114R - TMEM216_000005 - PubMed: Valente 2010 - - Unknown - - - 0 - DNA MCA - - MKS-2 - PubMed: Roume 1998 - F - - Tunisian - 0 - - 1 -
+/? 4 c.158T>G - r.(?) p.(Leu53Arg) Paternal (inferred) g.61165357T>G - T341G, L114R - TMEM216_000005 - PubMed: Valente 2010 - - Unknown - - - 0 - DNA MCA - - MKS-2 - - - M - - Tunisian - 0 - - 1 -
+/? 4 c.158T>G - r.(?) p.(Leu53Arg) Maternal (inferred) g.61165357T>G - T341G, L114R - TMEM216_000005 - PubMed: Valente 2010 - - Unknown - - - 0 - DNA MCA - - MKS-2 - - - M - - Tunisian - 0 - - 1 -
+/+? 4a c.158T>G - r.(341u>g) p.(Leu53Arg) Unknown g.61165357T>G - T341G, L114R - TMEM216_000005 Mutation leads to unstable protein product. PubMed: Valente 2010 - - Germline - 0/766 CON - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
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