Full data view for gene PFN1

Information The variants shown are described using the NM_005022.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-5419C>T r.(?) p.(=) Unknown - VUS g.4857108G>A - ENO3(NM_053013.4):c.412G>A (p.A138T) - ENO3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4891A>G r.(?) p.(=) Unknown - benign g.4856580T>C g.4953285T>C ENO3(NM_001976.5):c.254T>C (p.V85A) - ENO3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4701C>G r.(?) p.(=) Unknown - benign g.4856390G>C g.4953095G>C ENO3(NM_001976.4):c.226G>C (p.A76P) - ENO3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4687T>C r.(?) p.(=) Unknown - benign g.4856376A>G g.4953081A>G ENO3(NM_001976.5):c.212A>G (p.N71S) - ENO3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4680T>G r.(?) p.(=) Unknown - likely benign g.4856369A>C - ENO3(NM_001976.4):c.205A>C (p.I69L) - ENO3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57C>T r.(?) p.(Asp19=) Parent #1 - likely benign g.4851633G>A g.4948338G>A D19D - PFN1_000014 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ - - ALS - PubMed: Wu 2012 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.207G>A r.(?) p.(Gln69=) Parent #1 - likely benign g.4850041C>T g.4946746C>T Q69Q - PFN1_000013 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ - - ALS - PubMed: Wu 2012 - - - - - - - - - 1 Johan den Dunnen
+/. - c.211T>G r.(?) p.(Cys71Gly) Parent #1 - pathogenic (dominant) g.4850037A>C g.4946742A>C C71G - PFN1_000012 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALS Fam1 PubMed: Wu 2012 4-generation family, 8 affected - - - white - - - - 8 Johan den Dunnen
+/. - c.211T>G r.(?) p.(Cys71Gly) Parent #1 - pathogenic (dominant) g.4850037A>C g.4946742A>C C71G - PFN1_000012 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ - - ALS Fam3 PubMed: Wu 2012 4-generation family, 7 affected - - - - - - - - 7 Johan den Dunnen
+/. - c.211T>G r.(?) p.(Cys71Gly) Parent #1 - pathogenic (dominant) g.4850037A>C g.4946742A>C C71G - PFN1_000012 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ - - ALS Fam5 PubMed: Wu 2012 2-generation family, 2 affected - - - - - - - - 2 Johan den Dunnen
-/. - c.264T>C r.(=) p.(Leu88=) Unknown - likely benign g.4849984A>G - 264T>C (p.L88L) - PFN1_000008 - PubMed: Chen 2013 - - Germline - - - - - DNA SEQ - - ALS patient PubMed: Chen 2013 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.264T>C r.(=) p.(Leu88=) Unknown - likely benign g.4849984A>G - - - PFN1_000008 - PubMed: Chen 2013 - - Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Chen 2013 - - - China - - - - - 1 Johan den Dunnen
+/. - c.326C>T r.(?) p.(Thr109Met) Parent #1 - pathogenic g.4849292G>A - - - PFN1_000006 not in 972 controls PubMed: Ingre 2013 - - Germline - 1/412 cases familial ALS - - - DNA SEQ - - ALS Pat1 PubMed: Ingre 2013 4-generation family, 3 affected (3F) F - Germany - - - - - 3 Johan den Dunnen
-/. - c.334C>T r.(?) p.(Leu112=) Unknown - benign g.4849284G>A g.4945989G>A PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=) - PFN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.334C>T r.(?) p.(Leu112=) Unknown - benign g.4849284G>A g.4945989G>A PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=) - PFN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334C>T r.(?) p.(Leu112=) Unknown - likely benign g.4849284G>A g.4945989G>A PFN1(NM_005022.3):c.334C>T (p.L112=), PFN1(NM_005022.4):c.334C>T (p.L112=) - PFN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334C>T r.(?) p.(Leu112=) Parent #1 - likely benign g.4849284G>A g.4945989G>A L112L - PFN1_000003 - PubMed: Wu 2012 - rs13204 Germline - - - - - DNA SEQ - - ALS - PubMed: Wu 2012 - - - - - - - - - 1 Johan den Dunnen
+/. - c.341T>C r.(?) p.(Met114Thr) Parent #1 - pathogenic (dominant) g.4849277A>G g.4945982A>G M114T - PFN1_000011 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALS Fam2 PubMed: Wu 2012 3-generation family, 11 affected - - - Jew-Sephardic - - - - 11 Johan den Dunnen
+/. - c.341T>C r.(?) p.(Met114Thr) Parent #1 - pathogenic (dominant) g.4849277A>G g.4945982A>G M114T - PFN1_000011 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ - - ALS Fam4 PubMed: Wu 2012 3-generation family, 8 affected - - - - - - - - 8 Johan den Dunnen
?/. - c.350A>G r.(?) p.(Glu117Gly) Unknown - VUS g.4849268T>C g.4945973T>C PFN1(NM_005022.3):c.350A>G (p.E117G) - PFN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.350A>G r.(?) p.(Glu117Gly) Parent #1 - pathogenic (dominant) g.4849268T>C g.4945973T>C E117G - PFN1_000002 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ - - ALS Fam7 PubMed: Wu 2012 3-generation family, 2 affected - - - - - - - - 2 Johan den Dunnen
+/. - c.350A>G r.(?) p.(Glu117Gly) Parent #1 - pathogenic g.4849268T>C g.4945973T>C E117G - PFN1_000002 - PubMed: Wu 2012 - - Germline/De novo (untested) - 2/816 sporadic cases ALS - - - DNA SEQ - - ALS SALS1 PubMed: Wu 2012 sporadic case - - - - - - - - 1 Johan den Dunnen
+/. - c.350A>G r.(?) p.(Glu117Gly) Parent #1 - pathogenic g.4849268T>C g.4945973T>C E117G - PFN1_000002 - PubMed: Wu 2012 - - Germline/De novo (untested) - 2/816 sporadic cases ALS - - - DNA SEQ - - ALS SALS2 PubMed: Wu 2012 sporadic case - - - - - - - - 1 Johan den Dunnen
+?/. - c.350A>G r.(?) p.(Glu117Gly) Parent #1 - likely pathogenic g.4849268T>C - Gln117Gly - PFN1_000002 - PubMed: Ingre 2013 - - Germline - - - - - DNA SEQ - - ALS Pat2 PubMed: Ingre 2013 - - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.351A>T r.(?) p.(Glu117Asp) Unknown - VUS g.4849267T>A g.4945972T>A PFN1(NM_005022.3):c.351A>T (p.E117D) - PFN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.353G>T r.(?) p.(Gly118Val) Parent #1 - pathogenic (dominant) g.4849265C>A g.4945970C>A G118V - PFN1_000010 - PubMed: Wu 2012 - - Germline - - - - - DNA SEQ - - ALS Fam6 PubMed: Wu 2012 2-generation family, 2 affected - - - - - - - - 2 Johan den Dunnen
-?/. - c.372C>T r.(?) p.(Ile124=) Unknown - likely benign g.4849246G>A - PFN1(NM_005022.3):c.372C>T (p.I124=) - ENO3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.399C>T r.(?) p.(Ser133=) Parent #1 - benign g.4849219G>A g.4945924G>A S133S - PFN1_000009 - PubMed: Wu 2012 - rs145109002 Germline - - - - - DNA SEQ - - ALS - PubMed: Wu 2012 - - - - - - - - - 1 Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136Trp) Unknown - pathogenic g.4849212G>A - - - PFN1_000007 - PubMed: Chen 2013 - - Germline - 1/540 cases ALS - - - DNA SEQ - - ALS patient PubMed: Chen 2013 - - - China - - - - - 1 Johan den Dunnen
?/. - c.*961G>C r.(=) p.(=) Unknown - VUS g.4848234C>G g.4944939C>G RNF167(NM_015528.1):c.976C>G (p.(Pro326Ala)) - RNF167_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1010_*1011del r.(=) p.(=) Unknown - VUS g.4848185_4848186del - RNF167(NM_015528.1):c.927_928delAC (p.(Leu310fs)) - PFN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1282C>T r.(=) p.(=) Unknown - VUS g.4847913G>A g.4944618G>A RNF167(NM_015528.2):c.731G>A (p.R244Q) - PFN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2687G>A r.(=) p.(=) Unknown - VUS g.4846508C>T g.4943213C>T RNF167(NM_015528.1):c.505C>T (p.(Pro169Ser)) - RNF167_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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