Full data view for gene SMOC1

Information The variants shown are described using the NM_001034852.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.21C>T r.(?) p.(Ala7=) Unknown - likely benign g.70346416C>T - SMOC1(NM_001034852.2):c.21C>T (p.A7=) - SMOC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103C>G r.(?) p.(Leu35Val) Unknown - VUS g.70418858C>G g.69952141C>G SMOC1(NM_001034852.2):c.103C>G (p.L35V) - SMOC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.180_190del r.(?) p.(Arg61Valfs*4) Unknown - VUS g.70418935_70418945del g.69952218_69952228del 70418934_70418944del - SMOC1_000013 - PubMed: Timberlake 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - CRS Fam18PatII2/FamPat1 PubMed: Timberlake 2017, PubMed: Timberlake 2018 2-generation family, 1 affected, unaffected parents F no United States - - 0 - - 2 Johan den Dunnen
-?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely benign g.70418985C>T g.69952268C>T SMOC1(NM_001034852.2):c.230C>T (p.P77L) - SMOC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.244G>A r.(?) p.(Val82Met) Unknown - likely benign g.70418999G>A g.69952282G>A SMOC1(NM_001034852.2):c.244G>A (p.(Val82Met)) - SMOC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.253G>C r.(?) p.(Gly85Arg) Unknown - VUS g.70419008G>C - SMOC1(NM_001034852.2):c.253G>C (p.G85R) - SMOC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.423G>A r.(?) p.(Pro141=) Unknown - VUS g.70442476G>A g.69975759G>A SMOC1(NM_001034852.2):c.423G>A (p.P141=) - SMOC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489C>T r.(?) p.(Thr163=) Unknown - likely benign g.70444645C>T g.69977928C>T SMOC1(NM_001034852.2):c.489C>T (p.T163=) - SMOC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.567G>A r.(?) p.(Pro189=) Unknown - likely benign g.70459174G>A - SMOC1(NM_001034852.2):c.567G>A (p.P189=) - SMOC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.858-28_858-27delinsT r.(=) p.(=) Unknown - likely benign g.70478174_70478175delinsT g.70011457_70011458delinsT SMOC1(NM_001034852.2):c.858-28_858-20delACCCCCCCCinsTCCCCCCC - SMOC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - likely benign g.70478230G>A g.70011513G>A SMOC1(NM_001034852.2):c.886G>A (p.(Ala296Thr)) - SMOC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.982C>T r.(?) p.(Leu328=) Unknown - likely benign g.70480144C>T g.70013427C>T SMOC1(NM_001034852.2):c.982C>T (p.L328=) - SMOC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1047G>T r.(?) p.(Arg349Ser) Unknown - VUS g.70489920G>T g.70023203G>T SMOC1(NM_001034852.2):c.1047G>T (p.R349S) - SMOC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062C>T r.(?) p.(Asp354=) Unknown - likely benign g.70489935C>T g.70023218C>T SMOC1(NM_001034852.2):c.1062C>T (p.D354=) - SMOC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135A>C r.(?) p.(Ile379Leu) Unknown - VUS g.70490008A>C g.70023291A>C SMOC1(NM_001034852.2):c.1135A>C (p.I379L, p.(Ile379Leu)) - SMOC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1135A>C r.(?) p.(Ile379Leu) Unknown - VUS g.70490008A>C g.70023291A>C SMOC1(NM_001034852.2):c.1135A>C (p.I379L, p.(Ile379Leu)) - SMOC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1204C>T r.(?) p.(Arg402Trp) Unknown - VUS g.70490077C>T g.70023360C>T SMOC1(NM_001034852.2):c.1204C>T (p.R402W) - SMOC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1298G>A r.(?) p.(Arg433His) Unknown - likely benign g.70496965G>A g.70030248G>A SMOC1(NM_001034852.2):c.1298G>A (p.R433H, p.(Arg433His)) - SMOC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1298G>A r.(?) p.(Arg433His) Unknown - VUS g.70496965G>A g.70030248G>A SMOC1(NM_001034852.2):c.1298G>A (p.R433H, p.(Arg433His)) - SMOC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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