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.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - VUS g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - PubMed: Wainstein 2013 - ? ? South Africa - - 0 - - 1 Arleen D. Auerbach
?/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - VUS g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - PubMed: Wainstein 2013 - ? ? South Africa - - 0 - - 1 Arleen D. Auerbach
?/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - VUS g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - PubMed: Wainstein 2013 - ? ? South Africa - - 0 - - 1 Arleen D. Auerbach
?/. 5 c.637_643del r.(?) p.(fs*) FA Parent #1 - VUS g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - PubMed: Wainstein 2013 - ? ? South Africa - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #2 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #2 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #2 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(fs*) FA Parent #2 - pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - PubMed: Morgan 2005 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.637_643del r.(?) p.(Tyr213Lysfs*6) - Both (homozygous) ACMG pathogenic g.35077267_35077273del g.35077270_35077276del - - FANCG_000037 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - FANCG - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
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