rs121434426
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG.
|
25703136 |
2015 |
rs121434426
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population.
|
23067021 |
2013 |
rs121917783
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
|
23028338 |
2012 |
rs121917783
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
|
22778927 |
2012 |
rs121917783
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines.
|
20509860 |
2010 |
rs121434426
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.
|
12673805 |
2003 |
rs121917783
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.
|
7689011 |
1993 |
rs1302083447
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
|
29269525 |
2018 |
rs149797103
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
rs745568821
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
rs745882980
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
rs756140957
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
rs761341952
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
rs104886457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
IVS4+4A>T, del322G, and R548X, in FA patients.
|
28425259 |
2017 |
rs148473140
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
|
28102861 |
2017 |
rs745882980
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
|
28717661 |
2017 |
rs745882980
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
|
28102861 |
2017 |
rs761341952
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
|
28717661 |
2017 |
rs769547477
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
|
28717661 |
2017 |
rs772359099
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
|
28423363 |
2017 |
rs104886457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs104886459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Fanconi Anemia Proteins Function in Mitophagy and Immunity.
|
27133164 |
2016 |
rs1166286386
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.
|
26799702 |
2016 |
rs137852986
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
|
26968956 |
2016 |
rs147021911
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.
|
27542569 |
2016 |