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.

74 entries on 1 page. Showing entries 1 - 74.
Legend   How to query  

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     
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8 c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Nakanishi 2001 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/. 8i c.1077-2A>G r.spl p.? FA Parent #1 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/+ 8i c.1077-2A>G r.spl p.? FA Paternal (inferred) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/+ 8i c.1077-2A>G r.spl p.? FA Paternal (inferred) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/+ 8i c.1077-2A>G r.spl p.? FA Unknown - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Auerbach 2003 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.(fs*) FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Demuth 2000 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8 c.1077-2A>G r.spl p.? FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Nakanishi 2001 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl p.(fs*) FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/. 8i c.1077-2A>G r.spl p.(fs*) FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/. 8i c.1077-2A>G r.spl p.(fs*) FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/. 8i c.1077-2A>G r.spl p.(fs*) FA Parent #2 - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Ameziane 2007 - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Johan de Winter
+/+ 8i c.1077-2A>G r.spl p.? FA Maternal (inferred) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/+ 8i c.1077-2A>G r.spl p.? FA Maternal (inferred) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/+ 8i c.1077-2A>G r.spl p.? FA Maternal (confirmed) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/+ 8i c.1077-2A>G r.spl p.? FA Maternal (confirmed) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline ? - - - - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - - - - 1 Arleen D. Auerbach
+/. 8i c.1077-2A>G r.spl? p.? - Paternal (inferred) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline - - - - - DNA SEQ - - FANCG - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? - Maternal (confirmed) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline - - - - - DNA SEQ - - FANCG - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? - Maternal (confirmed) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline - - - - - DNA SEQ - - FANC - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? - Maternal (confirmed) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline - - - - - DNA SEQ - - FANC - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? - Paternal (inferred) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - - - - Germline - - - - - DNA SEQ - - FANC - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - F - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Both (homozygous) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl? p.? FA Maternal (confirmed) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig, SEQ - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl p.? FA Maternal (confirmed) - pathogenic g.35076027T>C g.35076030T>C - - FANCG_000020 - Pilonetto DV - HC/UFPR (07/08/2016) - - Germline - - - - - DNA PCRdig, SEQ - - FANCG - - - M - - - - - - - 1 Daniela Pilonetto
+/. 8i c.1077-2A>G r.spl p.? - Both (homozygous) - pathogenic (recessive) g.35076027T>C g.35076030T>C - - FANCG_000020 - PubMed: Pilonetto 2017 - - Germline - 21/255 cases FA - - - DNA SEQ - - FANC - PubMed: Pilonetto 2017 - - - Brazil - - - - - 2 Johan den Dunnen
+/. 8i c.1077-2A>G r.spl p.? - Parent #1 - pathogenic (recessive) g.35076027T>C g.35076030T>C - - FANCG_000020 combination variants not reported PubMed: Pilonetto 2017 - - Germline - 7/255 cases FA - - - DNA SEQ - - FANC - PubMed: Pilonetto 2017 - - - Brazil - - - - - 7 Johan den Dunnen
+/. 8i c.1077-2A>G r.spl p.? - Parent #1 - pathogenic (recessive) g.35076027T>C g.35076030T>C - - FANCG_000020 combination variants not reported PubMed: Pilonetto 2017 - - Germline - 49/128 cases FA - - - DNA SEQ - - FANC - PubMed: Pilonetto 2017 - - - Brazil - - - - - 49 Johan den Dunnen
Legend   How to query