Screening #0000022195

Individual ID 00022198
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Sue Richards


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
FANCA Fanconi anemia, complementation group A 16 q24.3 1 1900 661 2019-10-11 FANCA



Variants found

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.89883065_89828357del - - - FANCA_000468 - OHSU - - Germline ? - - 0 - Sue Richards FANCA - - - - - _1_29i NM_000135.2:c.(?_-1)_2852+?del FA - r.0? p.0? - - - - - - - - - - - - - - - - - - -
16 Parent #1 ?/. g.89831338T>G g.89764930T>G - - FANCA_000194 - OHSU - - Germline ? - - 0 - Sue Richards FANCA - - - - - 28 NM_000135.2:c.2738A>C FA - r.(?) p.(His913Pro) - - - - - - - - - - - - - - - - - - -
Legend