Unique variants in gene TSFM

Information The variants shown are described using the NM_001172696.1 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.30T>C benign r.(?) p.(=) g.58176614T>C - TSFM(NM_001172696.1):c.30T>C (p.F10=) - TSFM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.271T>G VUS r.(?) p.(Trp91Gly) g.58179985T>G - TSFM(NM_001172696.1):c.271T>G (p.W91G) - AVIL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.399del likely pathogenic r.(?) p.(Lys133Asnfs*9) g.58180861del - TSFM(NM_001172696.1):c.399delA (p.K133Nfs*9) - AVIL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 7 c.782G>C - r.(?) p.(Cys261Ser) g.58190107G>C g.57796324G>C - - TSFM_000003 - - - - Germline ? - - - - NeuroMeGen
?/. 1 7 c.919C>T - r.(?) p.(Gln307*) g.58190244C>T g.57796461C>T - - TSFM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 7 c.971_972del - r.(?) p.(Gln324Argfs*11) g.58190296_58190297del g.57796513_57796514del - - TSFM_000004 association with disease phenotype not proven PubMed: Neubauer 2017, Journal: Neubauer 2017 - - Germline ? - - - - Cordula Haas
+?/. 1 - c.973G>T likely pathogenic r.(?) p.(Gly325Trp) g.58190298G>T - TSFM(NM_001172696.1):c.973G>T (p.G325W) - AVIL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 7 c.*19C>T - r.(?) p.(=) g.58190385C>T g.57796602C>T - - TSFM_000002 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.*6750C>T VUS r.(=) p.(=) g.58197116C>T - AVIL(NM_006576.3):c.1876G>A (p.G626S) - AVIL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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