Individual #00020035

ID_report -
Reference PubMed: Chandrasekharappa 2013
Remarks -
Gender ?
Consanguinity ?
Country ? (unknown)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FANCL
Owner name Arleen D. Auerbach


Phenotypes

Fanconi anemia, complementation group L (FANCL) (FANCL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000017798 - - - Unknown - - - - - Arleen D. Auerbach



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020032 DNA;RNA RT-PCR;SEQ - - FANCL 2 Arleen D. Auerbach



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
2 Paternal (confirmed) ?/. g.58390033_58390030del g.58162895_58162898delAATC - - FANCL_000006 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - 0 - Arleen D. Auerbach FANCL - - - - - 11 NM_018062.3:c.871_874delGATT FA - r.(?) p.(D291Ffs*49) - - - - - - - - - - - - - - - - - - -
2 Maternal (confirmed) +/. g.58433394G>C g.58206259G>C - - FANCL_000004 affects splicing, series of products detected PubMed: Chandrasekharappa 2013 - - Germline ? - - 0 - Arleen D. Auerbach FANCL - - - - - 5i NM_018062.3:c.375-2033C>G FA - r.[374_375ins375-2066_375-2034, 374_375ins375-2360_375-2301ins375-2066_375-2034, 217_273del374_375ins375-2066_375-2034, ..] p.? - - - - - - - - - - - - - - - - - - -
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