Full data view for gene F8

Information The variants shown are described using the NM_000132.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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     
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Rossetti et al., 2007 - - Unknown ? - - 0 - DNA CSGE, PCR, PCRlr, SEQ, Southern - - HEMA - PubMed: Rossetti et al., 2007 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Higuchi et al., 1991a - - Unknown ? - - 0 - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Higuchi et al., 1991a - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Ivaskevicius et al., 2001 - - Unknown ? - - 0 - DNA CMC, DGGE, DHPLC, PCR, SEQ, Southern - - HEMA - PubMed: Ivaskevicius et al., 2001 - M ? Lithuania - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Lin et al., 2008 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Salviato et al., 2007 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Salviato et al., 2007 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Santacroce et al., 2009 - - Unknown ? - - 0 - DNA MLPA - - HEMA - PubMed: Santacroce et al., 2009 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Reiner & Thompson, 1992 - - Unknown ? - - 0 - DNA PCRdig, SEQ - - HEMA - PubMed: Reiner & Thompson, 1992 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Rossetti et al., 2007 - - Unknown ? - - 0 - DNA CSCE, PCR, PCRlr, SEQ, Southern - - HEMA - PubMed: Rossetti et al., 2007 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Millar et al., 1990 - - Unknown ? - - 0 - DNA PCR, Southern - - HEMA - PubMed: Millar et al., 1990 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Youssoufian et al., 1988d - - Unknown ? - - 0 - DNA Southern - - HEMA - PubMed: Youssoufian et al., 1988d - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Casaña et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Casaña et al., 2008 - M ? (Spain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Laurie et al., 2007 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Laurie et al., 2007 - M ? New Zealand - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Schwaab et al., 1993 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMA - PubMed: Schwaab et al., 1993 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
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