Full data view for gene F13B

Information The variants shown are described using the NM_001994.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.? r.? p.? Unknown - VUS g.? - - - NPHS2_000000 - PubMed: Ryan 2009 - rs12134960 Germline - - - - - DNA SEQ - - ? 18716611-Pat? PubMed: Ryan 2009 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Ivaskevicius 2010 - - Germline - - - - - DNA SEQ - - F13BD 20331752-Pat? PubMed: Ivaskevicius 2010 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Ivaskevicius 2010 - - Germline - - - - - DNA SEQ - - F13BD 20331752-Pat? PubMed: Ivaskevicius 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 1i c.65-2del r.spl p.? Unknown - pathogenic g.197032189del g.197063059del 65-2delA - F13B_000015 - PubMed: Hashiguchi 1993 - - Germline - - - - - DNA SEQ - - F13BD 8324218-Pat? PubMed: Hashiguchi 1993 - - - - - - - - - 1 Johan den Dunnen
+/? 2 c.73T>C r.(?) p.(Cys25Arg) Unknown - pathogenic g.197032179A>G g.197063049A>G Cys5Arg - F13B_000001 Sushi domain 1 PubMed: Ivaskevicius 2010 - - Unknown - - - - - DNA PCR, SEQ - - F13BD - PubMed: Ivaskevicius 2010 32% of normal FXIIIB:Ag, 47-53% of normal FXIII activity, 43% of normal FXIIIA:Ag F ? Germany white - - - - 1 Carville G. Bevans
+/. 4 c.299_300insACA r.(?) p.(Cys100*) Unknown - pathogenic g.197031066_197031067insGTT g.197061936_197061937insGTT - - F13B_000014 - PubMed: Izumi 1996 - - Germline - - - - - DNA SEQ - - F13BD 8639893-Pat? PubMed: Izumi 1996 - - - - - - - - - 1 Johan den Dunnen
+/? 3 c.302T>A r.(?) p.(Ile101Asn) Maternal (confirmed) - pathogenic g.197031063A>T g.197061933A>T Ile81Asn - F13B_000002 Sushi domain 2 PubMed: Ivaskevicius 2010 - - Germline - - - - - DNA PCR, SEQ - - F13BD - PubMed: Ivaskevicius 2010 60% of normal FXIIIB:Ag, 50-60% of normal FXIII activity, 46% FXIIIA:Ag F ? Germany white - - - - 1 Carville G. Bevans
?/. 4 c.344A>G r.(?) p.(His115Arg) Unknown - VUS g.197031021T>C - - - F13B_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Doggen 2003 - rs6003 Germline - - - - - DNA SEQ - - ? 12941053-Pat? PubMed: Doggen 2003 - - - - - - - - - 1 Johan den Dunnen
-/. - c.344G>A r.(?) p.(Arg115His) Unknown - benign g.197031021C>T g.197061891C>T F13B(NM_001994.3):c.344G>A (p.R115H) - F13B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.344G>A r.(?) p.(Arg115His) Unknown - benign g.197031021C>T g.197061891C>T F13B(NM_001994.3):c.344G>A (p.R115H) - F13B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.406C>T r.(?) p.(Leu136Phe) Unknown - pathogenic g.197030959G>A g.197061829G>A Leu116Phe - F13B_000003 Sushi domain 2 PubMed: Ivaskevicius 2010 - - Unknown - - - - - DNA PCR, SEQ - - F13BD - PubMed: Ivaskevicius 2010 64% of normal FXIIIB:Ag, 54-71% of normal FXIII actvity, 58% of normal FXIIIA:Ag M ? Germany white - - - - 1 Carville G. Bevans
-/. - c.456A>G r.(?) p.(Thr152=) Unknown - benign g.197030201T>C g.197061071T>C F13B(NM_001994.3):c.456A>G (p.T152=) - F13B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456A>G r.(?) p.(Thr152=) Unknown - benign g.197030201T>C g.197061071T>C F13B(NM_001994.3):c.456A>G (p.T152=) - F13B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.473_475del r.(?) p.(Gln158_Phe159delinsLeu) Unknown - pathogenic g.197030184_197030186del g.197061054_197061056del 473_475delTAT - F13B_000012 - PubMed: Ivaskevicius 2010 - - Germline - - - - - DNA SEQ - - F13BD 20331752-Pat? PubMed: Ivaskevicius 2010 - - - - - - - - - 1 Johan den Dunnen
?/. - c.570G>A r.(=) p.(=) Parent #1 - VUS g.197030087C>T g.197060957C>T - - F13B_000030 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17514253 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/? 5 c.709G>A r.(?) p.(Val237Ile) Unknown - pathogenic g.197029592C>T g.197060462C>T Val217Ile - F13B_000004 Sushi domain 4 PubMed: Ivaskevicius 2010 - - Unknown - - - - - DNA PCR, SEQ - - F13BD - PubMed: Ivaskevicius 2010 50% of normal FXIII activity F ? Germany white - - - - 1 Carville G. Bevans
?/. - c.709G>A r.(?) p.(Val237Ile) Unknown - VUS g.197029592C>T g.197060462C>T - - F13B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1007G>T r.(?) p.(Cys336Phe) Unknown - pathogenic g.197026307C>A g.197057177C>A - - F13B_000011 - PubMed: Ivaskevicius 2010 - - Germline - - - - - DNA SEQ - - F13BD 20331752-Pat? PubMed: Ivaskevicius 2010 - - - - - - - - - 1 Johan den Dunnen
+/? 7 c.1007G>T r.(?) p.(Cys336Phe) Unknown - pathogenic g.197026307C>A g.197057177C>A Cys316Phe - F13B_000005 Sushi domain 6 PubMed: Ivaskevicius 2010 - - Unknown - - - - - DNA PCR, SEQ - - F13BD - PubMed: Ivaskevicius 2010 45-48% of normal FXIII activity M ? Germany white - - - - 1 Carville G. Bevans
-?/. - c.1025T>C r.(?) p.(Ile342Thr) Unknown - likely benign g.197026289A>G g.197057159A>G - - F13B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1053dup r.(?) p.(Lys352*) Unknown - VUS g.197026261dup - F13B(NM_001994.3):c.1053dup (p.(Lys352Ter)) - F13B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1152_1155dup r.(?) p.(Ile386*) Unknown - pathogenic g.197026159_197026162dup g.197057029_197057032dup 1152_1155dupACTT - F13B_000010 - PubMed: Ivaskevicius 2010 - - Germline - - - - - DNA SEQ - - F13BD 20331752-Pat? PubMed: Ivaskevicius 2010 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1163A>T r.(?) p.(Glu388Val) Unknown - VUS g.197026151T>A - F13B(NM_001994.3):c.1163A>T (p.E388V) - F13B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1262T>A r.(?) p.(Val421Glu) Unknown - pathogenic g.197024937A>T g.197055807A>T Val401Glu - F13B_000006 Sushi domain 7 PubMed: Ivaskevicius 2010 - - Unknown - - - - - DNA PCR, SEQ - - F13BD - PubMed: Ivaskevicius 2010 45% of normal FXIII activity F ? Germany white - - - - 1 Carville G. Bevans
?/. - c.1303A>G r.(?) p.(Lys435Glu) Unknown - VUS g.197024896T>C - F13B(NM_001994.3):c.1303A>G (p.(Lys435Glu)) - F13B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1342C>T r.(?) p.(Pro448Ser) Unknown - pathogenic g.197024857G>A g.197055727G>A Pro428Ser - F13B_000007 Sushi domain 7 PubMed: Ivaskevicius 2010 - - Unknown - - - - - DNA PCR, SEQ - - F13BD - PubMed: Ivaskevicius 2010 44-48% of normal FXIII activity M ? Germany white - - - - 1 Carville G. Bevans
+/. 10 c.1349G>T r.(?) p.(Cys450Phe) Unknown - pathogenic g.197024850C>A g.197055720C>A - - F13B_000008 - PubMed: Hashiguchi 1993 - - Germline - - - - - DNA SEQ - - F13BD 8324218-Pat? PubMed: Hashiguchi 1993 - - - - - - - - - 1 Johan den Dunnen
+/? 8 c.1349G>T r.(?) p.(Cys450Phe) Unknown - pathogenic g.197024850C>A g.197055720C>A Cys430Phe - F13B_000008 - PubMed: Saito 1990 - - Unknown - - - - - DNA PCR, SEQ - - F13BD - PubMed: Saito 1990 - F ? Japan Asian - - - - 1 Carville G. Bevans
+/. 10 c.1498del r.spl p.(Glu500AsnfsTer11) Unknown - pathogenic g.197021821del g.197052691del 1498delG - F13B_000028 - PubMed: Koseki 2001 - - Germline - - - - - DNA SEQ - - F13BD 11313256-Pat? PubMed: Koseki 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1583_1585del r.(?) p.(His528_Gly529delinsArg) Unknown - pathogenic g.197019986_197019988del g.197050856_197050858del 1583_1585delCTC - F13B_000027 - PubMed: Karimi 2009 - - Germline - - - - - DNA SEQ - - F13BD 19598071-Pat? PubMed: Karimi 2009 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1806T>C r.(?) p.(Asn602=) Unknown - benign g.197009798A>G g.197040668A>G F13B(NM_001994.3):c.1806T>C (p.N602=) - F13B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1806T>C r.(?) p.(Asn602=) Unknown - benign g.197009798A>G g.197040668A>G F13B(NM_001994.3):c.1806T>C (p.N602=) - F13B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1815C>T r.(?) p.(=) Unknown - likely benign g.197009789G>A - - - F13B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1919A>G r.(?) p.(Gln640Arg) Unknown - likely benign g.197009685T>C - F13B(NM_001994.2):c.1919A>G (p.Q640R) - F13B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1958dup r.(?) p.(=) Unknown - pathogenic g.197008536dup g.197039406dup 1958dupT - F13B_000026 - PubMed: Ivaskevicius 2010 - - Germline - - - - - DNA SEQ - - F13BD 20331752-Pat? PubMed: Ivaskevicius 2010 - - - - - - - - - 1 Johan den Dunnen
-/. - c.*143G>A r.(=) p.(=) Unknown - benign g.197008365C>T g.197039235C>T - - F13B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

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