Individual #00022367

ID_report -
Reference -
Remarks Patient's sample not available; mutation identified from parental sample.
Gender ?
Consanguinity ?
Country United States
Population North American;African
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FANCN
Owner name Arleen D. Auerbach


Phenotypes

Fanconi anemia, complementation group N (FANCN) (FANCN)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000020139 - - - Unknown - - - - - Arleen D. Auerbach



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022365 DNA SEQ - - PALB2 2 Arleen D. Auerbach



Variants

2 entries on 1 page. Showing entries 1 - 2.
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 Parent #2 +/+ g.23619212del g.23607891del - - PALB2_000012 - PubMed: Reid 2007 ClinVar-126734 rs180177135 Unknown ? - - 0 - Arleen D. Auerbach PALB2 - - - - - 12 NM_024675.3:c.3323del FA pathogenic r.(?) p.(Tyr1108Serfs*16) - - - - - - - - - - - - - - - - - - -
16 Parent #1 +/+ g.23640590del g.23629269del - - PALB2_000011 - PubMed: Reid 2007 ClinVar-126659 rs180177116 Unknown ? - - 0 - Arleen D. Auerbach PALB2 - - - - - 6 NM_024675.3:c.2521del FA pathogenic r.(?) p.(Thr841Glnfs*10) - - - - - - - - - - - - - - - - - - -
Legend