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.

13 entries on 1 page. Showing entries 1 - 13.
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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_43_ c.(?_-1)_4368+?del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - PubMed: Chandra 2005 - - Germline ? - - 0 - DNA MLPA - - FANCA - - - ? ? ? (unknown) - - 0 - - 1 Sue Richards
+/. _1_43_ c.(?_-1)_4368+?del - r.0? p.0? FA Parent #2 g.89883065_89803896del - - - FANCA_000008 - PubMed: Centra 1998 - - Germline ? - - 0 - DNA SEQ - - FANCA - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - F ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - M ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - M ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - F ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - M ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - F ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - PubMed: Chandra 2005 - - Germline ? - - 0 - DNA SEQ - - FANCA - - - M ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #1 g.89883065_89805009del - - - FANCA_000008 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCA - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #2 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - M ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #2 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - M ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA Parent #2 g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - DNA SEQ - - FANCA - - - M ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
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