Full data view for gene F8

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

4 entries on 1 page. Showing entries 1 - 4.
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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.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047107, 00047108 and 00047109. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047106, 00047108 and 00047109. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047106, 00047107 and 00047109. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047106, 00047107 and 00047108. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
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