Individual #00021461

ID_report -
Reference -
Remarks -
Gender F
Consanguinity ?
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases FANCA
Owner name Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2008-05-04 22:13:24 +02:00 (CEST)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Phenotypes

Fanconi anemia, complementation group A (FANCA) (FANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000019232 - Unknown - - - - - - - Arleen D. Auerbach



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000021458 DNA SEQ - - FANCA 1 Arleen D. Auerbach
0000047129 DNA arrayCGH; PCR - - FANCA 2 Arleen D. Auerbach



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
16 Parent #1 +/+ - pathogenic (recessive) g.89813883_89847855del g.89747475_89781447del hg18 88341384-88375356 del33973 - FANCA_000697 - PubMed: Flynn 2014 - - Unknown - - - - - Arleen D. Auerbach FANCA - - - - 17i_33i NM_000135.2:c.1626+1412_3349-585del FA r.(?) p.(Pro543_Met1116del) - - - - - - - - - - - - - -
16 Parent #1 ?/. - pathogenic (recessive) g.(89813299_89815066)_(89838223_89839678)del g.(89746891_89748658)_(89771815_89773270)del - - FANCA_000385 - - - - Germline ? - - - - Arleen D. Auerbach FANCA - - - - 22i NM_000135.2:c.(2014+1_2015-1)_(3348+1_3349-1)del FA r.(?) p.? - - - - - - - - - - - - - -
16 Parent #2 +/+ - pathogenic (recessive) g.89878825_89887211del g.89812417_89820803del hg18 88406326-88414712 del8387 - FANCA_000653 - PubMed: Flynn 2014 - - Unknown - - - - - Arleen D. Auerbach FANCA - - - - _1_3i NM_000135.2:c.-42_284-1346{0} FA r.0? p.0? - - - - - - - - - - - - - -
Legend   How to query  


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