Full data view for gene F8

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

9 entries on 1 page. Showing entries 1 - 9.
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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     
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Coppola et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ, SSCA - - HEMA - PubMed: Coppola et al., 2009 - M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Astermark et al., 2005 - - Unknown ? - - 0 - DNA CMC, DGGE, DHPLC, PCR, PCRlr, SEQ, Southern, SSCA - - HEMA - PubMed: Astermark et al., 2005 Related to individual 00095005 M ? (Sweden) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Astermark et al., 2005 - - Unknown ? - - 0 - DNA CMC, DGGE, DHPLC, PCR, PCRlr, SEQ, Southern, SSCA - - HEMA - PubMed: Astermark et al., 2005 Related to individual 00095004 M ? (Sweden) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - 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
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - 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
+?/. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - 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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