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)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.30T>C r.(?) p.(Phe10=) - benign g.58176614T>C g.57782831T>C TSFM(NM_001172696.1):c.30T>C (p.F10=) - TSFM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.271T>G r.(?) p.(Trp91Gly) - VUS g.58179985T>G g.57786202T>G TSFM(NM_001172696.1):c.271T>G (p.W91G) - AVIL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.399del r.(?) p.(Lys133AsnfsTer9) - likely pathogenic g.58180861del g.57787078del TSFM(NM_001172696.1):c.399delA (p.K133Nfs*9) - AVIL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 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 r.(?) p.(Gly325Trp) - likely pathogenic g.58190298G>T g.57796515G>T TSFM(NM_001172696.1):c.973G>T (p.G325W) - AVIL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.*19C>T r.(?) p.(=) - pathogenic g.58190385C>T g.57796602C>T - - TSFM_000002 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.*6750C>T r.(=) p.(=) - VUS g.58197116C>T g.57803333C>T AVIL(NM_006576.3):c.1876G>A (p.G626S) - AVIL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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