Individual #00208600

ID_report Fam110
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases cancer, colon
Owner name Xiang Jiao


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209649 DNA SEQ-NG-I Blood - - 12 Xiang Jiao



Variants

12 entries on 1 page. Showing entries 1 - 12.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
6 Unknown ?/. - VUS g.38704943A>G g.38737167A>G - - DNAH8_000010 - - - rs6935293 Germline yes - - 0 - Xiang Jiao DNAH8 - - - - - - NM_001206927.1:c.863A>G - r.(?) p.(Asn288Ser) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.38905957C>T g.38938181C>T - - DNAH8_000011 - - - rs61757218 Germline yes - - 0 - Xiang Jiao DNAH8 - - - - - - NM_001206927.1:c.11771C>T - r.(?) p.(Thr3924Met) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.39034072G>A g.39066296G>A - - GLP1R_000001 - - - rs6923761 Germline yes - - 0 - Xiang Jiao GLP1R - - - - - - NM_002062.3:c.502G>A - r.(?) p.(Gly168Ser) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.40400288C>T g.40432549C>T - - LRFN2_000003 - - - rs61731040 Germline yes - - 0 - Xiang Jiao LRFN2 - - - - - - NM_020737.1:c.565G>A - r.(?) p.(Ala189Thr) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.41166017C>T g.41198279C>T - - TREML2_000001 - - - rs77093113 Germline yes - - 0 - Xiang Jiao TREML2 - - - - - - NM_024807.2:c.206G>A - r.(?) p.(Arg69Gln) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.41903798C>A g.41936060C>A - - CCND3_000001 - - - rs33966734 Germline yes - - 0 - Xiang Jiao CCND3 - - - - - - NM_001760.3:c.759G>T - r.(?) p.(Glu253Asp) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.43013368C>T g.43045630C>T - - CUL7_000020 - - - rs201130952 Germline yes - - 0 - Xiang Jiao CUL7 - - - - - - NM_014780.4:c.2819G>A - r.(?) p.(Arg940His) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.43112267C>T g.43144529C>T - - PTK7_000027 - - - rs34764696 Germline yes - - 0 - Xiang Jiao PTK7 - - - - - - NM_002821.4:c.2330C>T - r.(?) p.(Ala777Val) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.43153787G>A g.43186049G>A - - CUL9_000001 - - - rs61743561 Germline yes - - 0 - Xiang Jiao CUL9 - - - - - - NM_015089.2:c.845G>A - r.(?) p.(G282E) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.43166414_43166416del g.43198676_43198678del - - CUL9_000004 - - - rs141674093 Germline yes - - 0 - Xiang Jiao CUL9 - - - - - - NM_015089.2:c.2871_2873del - r.(?) p.(Gly958del) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.43596814C>G g.43629077C>G - - GTPBP2_000005 - - - rs112851070 Germline yes - - 0 - Xiang Jiao GTPBP2 - - - - - - NM_019096.3:c.86G>C - r.(?) p.(Gly29Ala) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.44147821A>G g.44180084A>G - - CAPN11_000003 - - - rs34710081 Germline yes - - 0 - Xiang Jiao CAPN11 - - - - - - NM_007058.3:c.1561A>G - r.(?) p.(Ile521Val) - - - - - - - - - - - - - - - - - - - -
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