Individual #00021488

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country ? (unknown)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FANCA
Owner name Arleen D. Auerbach


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     
0000019259 - Unknown - - - - - - - Arleen D. Auerbach



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000021485 DNA SEQ - - FANCA 2 Arleen D. Auerbach
0000047135 DNA arrayCGH - - FANCA 1 Arleen D. Auerbach



Variants

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

Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
16 Unknown +/+ g.89803959_(89807275_89809207)del - g.88184848_88336349del151502 - FANCA_000683 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach FANCA - - - - - 37i_43i NM_000135.2:c.(3765+1_3766-1)_(*1050_?)del FA - r.(?) p.? - - - - - - - - - - - - - - - - - - -
16 Parent #1 ?/. g.89805008_89883024del - - - FANCA_000000 range of deletion undefined - - - Germline ? - - 0 - Arleen D. Auerbach FANCA - - - - - _1_43_ NM_000135.2:c.(?_-1)_(*1_?)del FA - r.0? p.0? - - - - - - - - - - - - - - - - - - -
16 Parent #2 +/. g.89828393_89828394ins? - - - FANCA_000203 - - - - Germline ? - - 0 - Arleen D. Auerbach FANCA - - - - - 29 NM_000135.2:c.2815_2816ins FA - r.(?) p.(fs*) - - - - - - - - - - - - - - - - - - -
Legend