Screening #0000021514

Individual ID 00021517
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 4
Owner name Arleen D. Auerbach


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 2019-10-22 FANCA



Variants found

4 entries on 1 page. Showing entries 1 - 4.
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.89869727C>G g.89803319C>G - - FANCA_000096 - - - - Germline ? - - 0 - Arleen D. Auerbach FANCA - - - - - 8 NM_000135.2:c.732G>C FA - r.(?) p.? - - - - - - - - - - - - - - - - - - -
16 Parent #1 +/. g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach FANCA - - - - - _1_6i NM_000135.2:c.(?_-1)_596+?del FA - r.0? p.0? - - - - - - - - - - - - - - - - - - -
16 Parent #2 ?/. g.89874756G>A g.89808348G>A - - FANCA_000079 - - - - Germline ? - - 0 - Arleen D. Auerbach FANCA - - - - - 6 NM_000135.2:c.542C>T FA - r.(?) p.? - - - - - - - - - - - - - - - - - - -
16 Parent #2 ?/. g.89883000G>C g.89816592G>C - - FANCA_000021 - - - - Germline ? - - 0 - Arleen D. Auerbach FANCA - - - - - 1 NM_000135.2:c.24C>G FA - r.(?) p.? - - - - - - - - - - - - - - - - - - -
Legend