Full data view for gene F9

Information The variants shown are described using the NM_000133.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Crossley et al., 1990 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Crossley et al., 1990 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Hirosawa et al., 1990 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Hirosawa et al., 1990 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Poon et al., 1993 - - Unknown ? - - 0 - DNA PCR, SEQ, SSCA - - HEMB - PubMed: Poon et al., 1993 - M ? (Canada) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Ghanem et al., 1993 - - Unknown ? - - 0 - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Ghanem et al., 1993 - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Tartary et al., 1993 - - Unknown ? - - 0 - DNA DGGE, PCR, SEQ, Southern - - HEMB - PubMed: Tartary et al., 1993 - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Stowell et al., 1993 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Stowell et al., 1993 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Morgan et al., 1995 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Morgan et al., 1995 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Bottema et al., 1993 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Bottema et al., 1993 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Saad et al., 1994 - - Unknown ? - - 0 - DNA HD, PCR, SEQ - - HEMB - PubMed: Saad et al., 1994 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Saad et al., 1994 - - Unknown ? - - 0 - DNA HD, PCR, SEQ - - HEMB - PubMed: Saad et al., 1994 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Coyle et al., 1994 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Coyle et al., 1994 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Australia) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Wilton et al., 1997 - - Unknown ? - - 0 - ? ? - - HEMB - PubMed: Wilton et al., 1997 - M ? (Canada) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Attali et al., 1999 - - Unknown ? - - 0 - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Canada) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Canada) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Canada) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Radic et al., 2013 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Radic et al., 2013 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1 c.-35G>A r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - PubMed: Miller et al., 2012 - - Unknown ? - - 0 - DNA MLPA, PCR, SEQ - - HEMB - PubMed: Miller et al., 2012 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
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