Full data view for gene FANCG

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_004629.1 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - - - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - - - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Yamada 2000 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Yamada 2000 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - M ? ? (unknown) - - 0 - - 1 Myungshin Kim
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Yamada 2000 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - M ? ? (unknown) - - 0 - - 1 Myungshin Kim
+/. 3i c.307+1G>C r.spl p.? FA Parent #1 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? Iran - - 0 - - 1 Johan de Winter
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - - - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - - - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Yamada 2000 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Yamada 2000 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.307+1G>C r.spl p.? FA Parent #2 - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? Iran - - 0 - - 1 Johan de Winter
+/. 3i c.307+1G>C r.spl p.? FA Paternal (inferred) - pathogenic g.35078601C>G g.35078604C>G - - FANCG_000019 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 3i c.307+1G>C r.spl p.? - Parent #1 - pathogenic (recessive) g.35078601C>G g.35078604C>G - - FANCG_000019 combination variants not reported PubMed: Pilonetto 2017 - - Germline - 1/128 cases FA - 0 - DNA SEQ - - FANC - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - 1 Johan den Dunnen
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