Full data view for 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     

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     
-/. - c.30T>C r.(?) p.(Phe10=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.271T>G r.(?) p.(Trp91Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.399del r.(?) p.(Lys133AsnfsTer9) Unknown - likely pathogenic g.58180861del g.57787078del TSFM(NM_001172696.1):c.399delA (p.K133Nfs*9) - AVIL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.782G>C r.(?) p.(Cys261Ser) Both (homozygous) - - g.58190107G>C g.57796324G>C - - TSFM_000003 - - - - Germline ? - - 0 - DNA SEQ-NG Blood - COXPD-3 - - - M - Spain - - 0 - - 1 NeuroMeGen
?/. 7 c.919C>T r.(?) p.(Gln307*) Unknown - - g.58190244C>T g.57796461C>T - - TSFM_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. 7 c.971_972del r.(?) p.(Gln324Argfs*11) Unknown - - g.58190296_58190297del g.57796513_57796514del - - TSFM_000004 association with disease phenotype not proven PubMed: Neubauer 2017, Journal: Neubauer 2017 - - Germline ? - - 0 - DNA SEQ-NG-I - - SIDS - PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland European 00y04m 0 - - 1 Cordula Haas
+?/. - c.973G>T r.(?) p.(Gly325Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.*19C>T r.(?) p.(=) Parent #1 - pathogenic g.58190385C>T g.57796602C>T - - TSFM_000002 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.*6750C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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