Full data view for gene F7

Information The variants shown are described using the NM_000131.4 transcript reference sequence.

471 entries on 5 pages. Showing entries 1 - 100.
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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     
?/? 1 c.-96C>T r.(=) p.(=) Unknown EAHAD-CFDB VUS g.113760060C>T g.113105746C>T 5'UTR - F7_000001 double heterozygote - - - Germline - - MluI 0 - DNA SEQ - - F7D - - A1A1; H1H1; ab; S1S1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? _1 c.-94C>G r.(=) p.(=) Both (homozygous) EAHAD-CFDB VUS g.113760062C>G g.113105748C>G 5'UTR - F7_000002 - PubMed: Carew 1998 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Carew 1998 M2M2; H2H2; S1S1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? _1 c.-61T>G r.(=) p.(=) Both (homozygous) EAHAD-CFDB VUS g.113760095T>G g.113105781T>G 5'UTR - F7_000003 - PubMed: Arbini 1997 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Arbini 1997 M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? _1 c.-61T>G r.(=) p.(=) Unknown EAHAD-CFDB VUS g.113760095T>G g.113105781T>G 5'UTR - F7_000003 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; H1H1; H6H7; I1I1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? _1 c.-60T>C r.(=) p.(=) Unknown EAHAD-CFDB VUS g.113760096T>C g.113105782T>C 5'UTR - F7_000004 double heterozygote Tidd 1999 - - Germline - - - 0 - DNA SEQ - - F7D - Tidd 1999 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.-60T>C r.(=) p.(=) Unknown EAHAD-CFDB VUS g.113760096T>C g.113105782T>C 5'UTR - F7_000004 double heterozygote Tidd 1999 - - Germline - - - 0 - DNA SEQ - - F7D - Tidd 1999 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.-55C>T r.? p.? Unknown EAHAD-CFDB VUS g.113760101C>T g.113105787C>T 5'UTR - F7_000005 compound heterozygote PubMed: Carew 1998 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Carew 1998 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.-55C>T r.(=) p.(=) Both (homozygous) EAHAD-CFDB VUS g.113760101C>T g.113105787C>T 5'UTR - F7_000005 - PubMed: Carew 1998 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Carew 1998 M2M2; H2H2; S1S1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.-55C>T r.(=) p.(=) Unknown EAHAD-CFDB VUS g.113760101C>T g.113105787C>T 5'UTR - F7_000005 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; H1H1; H6H7; I1I1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
+/. - c.-55C>T r.(?) p.(=) Unknown - pathogenic g.113760101C>T g.113105787C>T - - F7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.-30A>C r.(?) p.(=) Unknown EAHAD-CFDB VUS g.113760126A>C g.113105812A>C 5'UTR - F7_000006 heterozygote PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A2;C1C2;M1M2;5/6 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.-30A>C r.(?) p.(=) Both (homozygous) EAHAD-CFDB VUS g.113760126A>C g.113105812A>C 5'UTR - F7_000006 - PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A1;C1C1;M1M1;5/5 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.-30A>C r.(?) p.(=) Unknown EAHAD-CFDB VUS g.113760126A>C g.113105812A>C 5'UTR - F7_000006 heterozygote PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A2;C1C2;M2M2;5/6 - - - - - 0 - - 1 Pavithra Rallapalli
+?/. - c.-30A>C r.(?) p.(=) Unknown - likely pathogenic g.113760126A>C g.113105812A>C - - F7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.1A>G r.(?) p.0? Unknown EAHAD-CFDB VUS g.113760156A>G g.113105842A>G - - F7_000007 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A2; M1M2; H1H2; I1I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.3G>C r.(?) p.0? Unknown EAHAD-CFDB VUS g.113760158G>C g.113105844G>C - - F7_000008 double heterozygote PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A1; C1C1; M1M1; 5/5 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.10C>T r.(?) p.(Gln4*) Unknown EAHAD-CFDB VUS g.113760165C>T g.113105851C>T - - F7_000009 compound heterozygote PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1:P1P1;G1G1;H1H1;7/7;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.27_28del r.(?) p.(Cys10Profs*16) Unknown EAHAD-CFDB VUS g.113760182_113760183del g.113105868_113105869del 26_27delTC - F7_000010 compound heterozygote PubMed: Shen 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Shen 2001 A1A2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.27_28del r.(?) p.(Cys10Profs*16) Both (homozygous) EAHAD-CFDB VUS g.113760182_113760183del g.113105868_113105869del 27_28delCT - F7_000010 - PubMed: Peyvandi 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Peyvandi 2000 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.38T>C r.(?) p.(Leu13Pro) Both (homozygous) EAHAD-CFDB VUS g.113760193T>C g.113105879T>C - - F7_000011 - PubMed: Ozawa 1998 - - Germline - - ScrFI 0 - DNA SEQ - - F7D - PubMed: Ozawa 1998 A1A1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.56T>C r.(?) p.(Leu19Pro) Unknown EAHAD-CFDB VUS g.113760211T>C g.113105897T>C - - F7_000012 compound heterozygote PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;7/7;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1 c.64G>A r.(?) p.(Gly22Ser) Both (homozygous) EAHAD-CFDB VUS g.113760219G>A g.113105905G>A - - F7_000013 - PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;6/6;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
-?/. - c.64+4C>T r.spl? p.? Unknown - likely benign g.113760223C>T g.113105909C>T - - F7_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1i c.64+5G>A r.spl? p.? Both (homozygous) EAHAD-CFDB VUS g.113760224G>A g.113105910G>A - - F7_000014 - PubMed: Peyvandi 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Peyvandi 2000 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 1i c.64+5G>A r.spl? p.? Unknown EAHAD-CFDB VUS g.113760224G>A g.113105910G>A - - F7_000014 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; H1H1; H6H7; I1I1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
-/. - c.64+9G>A r.(=) p.(=) Unknown - benign g.113760228G>A g.113105914G>A - - F7_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.65G>A r.(?) p.(Gly22Asp) Unknown - VUS g.113761159G>A g.113106845G>A - - F7_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2i c.131-11G>A r.spl? p.(=) Unknown EAHAD-CFDB VUS g.113764993G>A g.113110679G>A - - F7_000015 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; M1M1; H1H1; I2I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.190T>C r.(?) p.(Phe64Leu) Both (homozygous) EAHAD-CFDB VUS g.113765063T>C g.113110749T>C - - F7_000016 - PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;7/7;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.218T>A r.(?) p.(Leu73Gln) Unknown EAHAD-CFDB VUS g.113765091T>A g.113110777T>A - - F7_000017 double heterozygote PubMed: Millar 2000 - - Germline - - AvaII 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A1; C1C2; M2M2; 5/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.218T>A r.(?) p.(Leu73Gln) Unknown EAHAD-CFDB VUS g.113765091T>A g.113110777T>A - - F7_000017 double heterozygote - - - Germline - - - 0 - DNA SEQ - - F7D - - aa; M2M2; H2H2; I2I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.218T>A r.(?) p.(Leu73Gln) Unknown EAHAD-CFDB VUS g.113765091T>A g.113110777T>A - - F7_000017 compound double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; H2H2; H7H7; I2I2; M2M2; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.226G>A r.(?) p.(Glu76Lys) Unknown EAHAD-CFDB VUS g.113765099G>A g.113110785G>A - - F7_000018 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A2; H1H1; H6H7; I1I1; M1M1 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.235G>C r.(?) p.(Glu79Gln) Unknown EAHAD-CFDB VUS g.113765108G>C g.113110794G>C - - F7_000019 heterozygote PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A2A2; C2C2; M2M2; 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.245G>T r.(?) p.(Cys82Phe) Unknown EAHAD-CFDB VUS g.113765118G>T g.113110804G>T - - F7_000020 double heterozygote - - - Germline - - - 0 - DNA SEQ - - F7D - - aa; M1M2; H1H2; I1I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.245G>T r.(?) p.(Cys82Phe) Unknown EAHAD-CFDB VUS g.113765118G>T g.113110804G>T - - F7_000020 double heterozygote - - - Germline - - - 0 - DNA SEQ - - F7D - - aa; M1M2; H1H2; I1I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.247T>C r.(?) p.(Ser83Pro) Unknown EAHAD-CFDB VUS g.113765120T>C g.113110806T>C - - F7_000021 heterozygote PubMed: Peyvandi 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Peyvandi 2000 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.250_252del r.(?) p.(Phe84del) Both (homozygous) EAHAD-CFDB VUS g.113765123_113765125del g.113110809_113110811del 250_252del3 - F7_000022 - Tamary 1997 - - Germline - - TaqI 0 - DNA SEQ - - F7D - Tamary 1997 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.253G>A r.(?) p.(Glu85Lys) Unknown EAHAD-CFDB VUS g.113765126G>A g.113110812G>A - - F7_000023 double heterozygote - - - Germline - - TaqI 0 - DNA SEQ - - F7D - - A1A1; H1H1; aa; S1S1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.256G>T r.(?) p.(Glu86*) Unknown EAHAD-CFDB VUS g.113765129G>T g.113110815G>T - - F7_000024 double heterozygote - - - Germline - - - 0 - DNA SEQ - - F7D - - aa; M1M2; H1H2; I1I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.256G>T r.(?) p.(Glu86*) Unknown EAHAD-CFDB VUS g.113765129G>T g.113110815G>T - - F7_000024 double heterozygote - - - Germline - - - 0 - DNA SEQ - - F7D - - aa; M1M2; H1H2; I1I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3 c.262C>G r.(?) p.(Arg88Gly) Unknown EAHAD-CFDB VUS g.113765135C>G g.113110821C>G - - F7_000025 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - AvaI-;AvaI- 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A2A2; M1M2; H1H2; I2I2 - - - - - 0 - - 1 Pavithra Rallapalli
-/. - c.285G>A r.(?) p.(Glu95=) Unknown - benign g.113765158G>A - - - F7_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.291G>C r.(?) p.(Thr97=) Both (homozygous) EAHAD-CFDB VUS g.113765164G>C g.113110850G>C - - F7_000026 - PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A2A2; C2C2; M2M2; 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3i c.291+1G>A r.spl p.? Unknown EAHAD-CFDB VUS g.113765165G>A g.113110851G>A - - F7_000027 compound heterozygote PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;7/6;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3i c.291+1G>A r.spl p.? Both (homozygous) EAHAD-CFDB VUS g.113765165G>A g.113110851G>A - - F7_000027 - PubMed: Peyvandi 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Peyvandi 2000 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3i c.291+1G>A r.spl p.? Unknown EAHAD-CFDB VUS g.113765165G>A g.113110851G>A - - F7_000027 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; M1M1; H1H1; I2I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 3i c.291+5G>T r.spl? p.? Unknown EAHAD-CFDB VUS g.113765169G>T g.113110855G>T - - F7_000028 compound heterozygote PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;7/7;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 4i c.316+5G>A r.spl? p.? Unknown EAHAD-CFDB VUS g.113768095G>A g.113113781G>A - - F7_000029 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A2; H1H1; H6H7; I1I1; M1M1 - - - - - 0 - - 1 Pavithra Rallapalli
?/. - c.317-7T>G r.(=) p.(=) Unknown - VUS g.113768154T>G g.113113840T>G - - F7_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4i c.317-1G>A r.spl p.? Unknown EAHAD-CFDB VUS g.113768160G>A g.113113846G>A - - F7_000030 compound heterozygote PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;6/6;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
+?/. - c.317-1G>C r.spl? p.? Unknown - likely pathogenic g.113768160G>C g.113113846G>C - - F7_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.325C>T r.(?) p.(Gln109*) Unknown EAHAD-CFDB VUS g.113768169C>T g.113113855C>T - - F7_000031 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - Ava;I-;ScaI 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; M1M1; H1H1; I1I1 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.349A>G r.(?) p.(Asn117Asp) Unknown EAHAD-CFDB VUS g.113768193A>G g.113113879A>G - - F7_000032 heterozygote Chen 1993 - - Germline - - FokI 0 - DNA SEQ - - F7D - Chen 1993 M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.349A>G r.(?) p.(Asn117Asp) Unknown EAHAD-CFDB VUS g.113768193A>G g.113113879A>G - - F7_000032 heterozygote PubMed: Leonard 1998 - - Germline - - FokI 0 - DNA SEQ - - F7D - PubMed: Leonard 1998 M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.349A>G r.(?) p.(Asn117Asp) Unknown EAHAD-CFDB VUS g.113768193A>G g.113113879A>G - - F7_000032 heterozygote PubMed: Leonard 1998 - - Germline - - FokI 0 - DNA SEQ - - F7D - PubMed: Leonard 1998 M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.349A>G r.(?) p.(Asn117Asp) Unknown EAHAD-CFDB VUS g.113768193A>G g.113113879A>G - - F7_000032 heterozygote PubMed: Leonard 1998 - - Germline - - FokI 0 - DNA SEQ - - F7D - PubMed: Leonard 1998 M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.350A>T r.(?) p.(Asn117Ile) Both (homozygous) EAHAD-CFDB VUS g.113768194A>T g.113113880A>T - - F7_000033 - PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; M1M1; H1H1; I1I1 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.358T>C r.(?) p.(Ser120Pro) Unknown EAHAD-CFDB VUS g.113768202T>C g.113113888T>C - - F7_000034 compound heterozygote PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;7/7;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.362G>T r.(?) p.(Cys121Phe) Unknown EAHAD-CFDB VUS g.113768206G>T g.113113892G>T - - F7_000035 double heterozygote PubMed: Millar 2000 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A1; C1C1; M1M1; 5/5; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.363C>A r.(?) p.(Cys121*) Unknown EAHAD-CFDB VUS g.113768207C>A g.113113893C>A - - F7_000036 double heterozygote PubMed: Au 2000 - - Germline - - HgiCI 0 - DNA SEQ - - F7D - PubMed: Au 2000 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.374T>C r.(?) p.(Leu125Pro) Unknown EAHAD-CFDB VUS g.113768218T>C g.113113904T>C - - F7_000037 double heterozygote PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A2; C1C2; M1M2; 5/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.383A>G r.(?) p.(Tyr128Cys) Unknown EAHAD-CFDB VUS g.113768227A>G g.113113913A>G - - F7_000038 heterozygote PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A1; C1C1; M1M1; 5/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.383A>G r.(?) p.(Tyr128Cys) Unknown EAHAD-CFDB VUS g.113768227A>G g.113113913A>G - - F7_000038 compound heterozygote PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;6/6;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.413G>A r.(?) p.(Gly138Asp) Unknown EAHAD-CFDB VUS g.113768257G>A g.113113943G>A - - F7_000039 double heterozygote - - - Germline - - - 0 - DNA SEQ - - F7D - - aa; M1M2; H1H2; I1I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.413G>A r.(?) p.(Gly138Asp) Unknown EAHAD-CFDB VUS g.113768257G>A g.113113943G>A - - F7_000039 double heterozygote - - - Germline - - - 0 - DNA SEQ - - F7D - - aa; M2M2; H2H2; I2I2 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.415C>T r.(?) p.(Arg139Trp) Unknown EAHAD-CFDB VUS g.113768259C>T g.113113945C>T - - F7_000040 double heterozygote PubMed: Millar 2000 - - Germline - - MspI;HaeIII 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A2; C1C2; M1M2; 5/6 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.416G>A r.(?) p.(Arg139Gln) Both (homozygous) EAHAD-CFDB VUS g.113768260G>A g.113113946G>A - - F7_000041 - PubMed: Takamiya 1995 - - Germline - - MspI 0 - DNA SEQ - - F7D - PubMed: Takamiya 1995 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.416G>A r.(?) p.(Arg139Gln) Both (homozygous) EAHAD-CFDB VUS g.113768260G>A g.113113946G>A - - F7_000041 - PubMed: Takamiya 1993 - - Germline - - MspI 0 - DNA SEQ - - F7D - PubMed: Takamiya 1993 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.416G>A r.(?) p.(Arg139Gln) Both (homozygous) EAHAD-CFDB VUS g.113768260G>A g.113113946G>A - - F7_000041 - PubMed: Chaing 1994 - - Germline - - MspI 0 - DNA SEQ - - F7D - PubMed: Chaing 1994 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5 c.416G>A r.(?) p.(Arg139Gln) Unknown EAHAD-CFDB VUS g.113768260G>A g.113113946G>A - - F7_000041 double heterozygote PubMed: Chaing 1994 - - Germline - - MspI;MspI 0 - DNA SEQ - - F7D - PubMed: Chaing 1994 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5i c.430+1G>A r.spl p.? Both (homozygous) EAHAD-CFDB VUS g.113768275G>A g.113113961G>A - - F7_000042 - PubMed: McVey 1998 - - Germline - - MluI 0 - DNA SEQ - - F7D - PubMed: McVey 1998 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5i c.430+1G>A r.spl p.? Unknown EAHAD-CFDB VUS g.113768275G>A g.113113961G>A - - F7_000042 double heterozygote PubMed: Arbini 1996 - - Germline - - MluI 0 - DNA SEQ - - F7D - PubMed: Arbini 1996 M1M2; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5i c.430+1G>A r.spl p.? Both (homozygous) EAHAD-CFDB VUS g.113768275G>A g.113113961G>A - - F7_000042 - PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;6/6;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5i c.430+1G>A r.spl p.? Unknown EAHAD-CFDB VUS g.113768275G>A g.113113961G>A - - F7_000042 double heterozygote PubMed: Millar 2000 - - Germline - - MluI 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A2; C1C2; M1M2; 6/6 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5i c.430+1G>A r.spl p.? Unknown EAHAD-CFDB VUS g.113768275G>A g.113113961G>A - - F7_000042 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; H1H1; I1I1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 5i c.430+1G>A r.spl p.? Unknown EAHAD-CFDB VUS g.113768275G>A g.113113961G>A - - F7_000042 double heterozygote - - - Germline - - MluI 0 - DNA SEQ - - F7D - - A1A1; H1H1; ab; S1S1; M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
+/. - c.430+1G>A r.spl? p.? Unknown - pathogenic g.113768275G>A g.113113961G>A - - F7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.452G>C r.(?) p.(Cys151Ser) Both (homozygous) EAHAD-CFDB VUS g.113769995G>C g.113115681G>C - - F7_000043 - PubMed: Millar 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A2A2: C1C1; M2M2; 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.460G>A r.(?) p.(Glu154Lys) Both (homozygous) EAHAD-CFDB VUS g.113770003G>A g.113115689G>A - - F7_000044 - PubMed: Wulff 2000 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A1A1;P1P1;G1G1;H1H1;6/6;M1M1; - - - - - 0 - - 1 Pavithra Rallapalli
?/. - c.460G>A r.(?) p.(Glu154Lys) Unknown - VUS g.113770003G>A g.113115689G>A - - F7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.466G>A r.(?) p.(Gly156Ser) Unknown EAHAD-CFDB VUS g.113770009G>A g.113115695G>A - - F7_000045 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - NspBII(+) 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A2; M1M1; H1H1; I1I1 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.469G>A r.(?) p.(Gly157Ser) Unknown EAHAD-CFDB VUS g.113770012G>A g.113115698G>A - - F7_000046 heterozygote PubMed: Bernardi 1993 - - Germline - - PvuII 0 - DNA SEQ - - F7D - PubMed: Bernardi 1993 7/6; A1A1; M2M2;H2H2; S1S1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.469G>A r.(?) p.(Gly157Ser) Unknown EAHAD-CFDB VUS g.113770012G>A g.113115698G>A - - F7_000046 compound heterozygote PubMed: Wulff 2000 - - Germline - - PvuII 0 - DNA SEQ - - F7D - PubMed: Wulff 2000 A2A2;P2P2;G2G2;H2H2;7/7;M2M2; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.469G>T r.(?) p.(Gly157Cys) Unknown EAHAD-CFDB VUS g.113770012G>T g.113115698G>T - - F7_000047 heterozygote PubMed: Bernardi 1993 - - Germline - - - 0 - DNA SEQ - - F7D - PubMed: Bernardi 1993 7/7; A2A2; H2H2; M2M2; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.469G>T r.(?) p.(Gly157Cys) Both (homozygous) EAHAD-CFDB VUS g.113770012G>T g.113115698G>T - - F7_000047 - PubMed: Hunault 1999 - - Germline - - BbvI 0 - DNA SEQ - - F7D - PubMed: Hunault 1999 A2A2; H2H2;M2M2; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.469G>T r.(?) p.(Gly157Cys) Unknown EAHAD-CFDB VUS g.113770012G>T g.113115698G>T - - F7_000047 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - BsrBI 0 - DNA SEQ - - F7D - PubMed: Giansily-Blaizot 2001 A1A1; H1H2; H6H7; I1I2; M1M2; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.469G>T r.(?) p.(Gly157Cys) Unknown EAHAD-CFDB VUS g.113770012G>T g.113115698G>T - - F7_000047 double heterozygote PubMed: Bernardi 1993 - - Germline - - RsaI 0 - DNA SEQ - - F7D - PubMed: Bernardi 1993 7/6; A1A2; M1M2; H1H2; S1S1; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.470G>T r.(?) p.(Gly157Val) Unknown EAHAD-CFDB VUS g.113770013G>T g.113115699G>T - - F7_000048 double heterozygote PubMed: Millar 2000 - - Germline - - MspI;HaeIII 0 - DNA SEQ - - F7D - PubMed: Millar 2000 A1A2; C1C2; M1M2; 5/6 - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Unknown EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 heterozygote Kavlie 1993 - - Germline - - ScaI 0 - DNA SEQ - - F7D - Kavlie 1993 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Unknown EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 double heterozygote PubMed: Takamiya 1993 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Takamiya 1993 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - Kavlie 1993 - - Germline - - ScaI 0 - DNA SEQ - - F7D - Kavlie 1993 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Unknown EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 double heterozygote Kavlie 1997 - - Germline - - ScaI 0 - DNA SEQ - - F7D - Kavlie 1997 - - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - PubMed: Kavlie 1998 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Kavlie 1998 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - PubMed: Kavlie 1998 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Kavlie 1998 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - PubMed: Kavlie 1998 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Kavlie 1998 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - PubMed: Kavlie 1998 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Kavlie 1998 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - PubMed: Kavlie 1998 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Kavlie 1998 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - PubMed: Kavlie 1998 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Kavlie 1998 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
?/? 6 c.479A>G r.(?) p.(Gln160Arg) Both (homozygous) EAHAD-CFDB VUS g.113770022A>G g.113115708A>G - - F7_000049 - PubMed: Kavlie 1998 - - Germline - - ScaI 0 - DNA SEQ - - F7D - PubMed: Kavlie 1998 6/6; - - - - - 0 - - 1 Pavithra Rallapalli
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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.