Full data view for gene FANCA

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000135.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA Unknown g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - DNA arrayCGH, PCR - - FANCA - - - F ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA Unknown g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - DNA arrayCGH, PCR - - FANCA - PubMed: Flynn EK 2014 - - - - - - 0 - - 1 Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA Unknown g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - DNA arrayCGH, PCR - - FANCA - PubMed: Flynn EK 2014 - - - - - - 0 - - 1 Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA Unknown g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - DNA arrayCGH, PCR - - FANCA - PubMed: Flynn EK 2014 - - - - - - 0 - - 1 Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA Unknown g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - DNA arrayCGH, PCR - - FANCA - PubMed: Flynn EK 2014 - - - - - - 0 - - 1 Arleen D. Auerbach
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