Individual #00155668

ID_report -
Reference contributed by Dept. of Dr Vaccaro
Remarks -
Gender -
Consanguinity -
Country Argentina
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Angela Solano & F Cardoso


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156533 DNA SEQ - - - 44 Angela Solano & F Cardoso



Variants

44 entries on 1 page. Showing entries 1 - 44.
Legend  

Chr     

Allele     

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     

Effect     

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     
1 Both (homozygous) g.45796935G>C - - - MUTYH_000343 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH ?/. - - - - - 14i NM_001128425.1:c.1435-40C>G - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) g.45798734T>C - - - MUTYH_000354 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH -/. - - - - - 6i NM_001128425.1:c.462+35A>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47601106T>C - - - EPCAM_000014 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso EPCAM -/. - - - - - 3 NM_002354.2:c.344T>C - benign r.(?) p.(Met115Thr) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47612224C>T - - - EPCAM_000029 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso EPCAM ?/. - - - - - 7i NM_002354.2:c.859-81C>T - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47613870T>C - - - EPCAM_000022 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso EPCAM -?/. - - - - - 9 NM_002354.2:c.*118T>C - likely benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47630213T>C - - - MSH2_000892 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 1 NM_000251.2:c.-118T>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47630550C>G - - - MSH2_000070 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 1i NM_000251.2:c.211+9C>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47630639T>C - - - MSH2_001106 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 1i NM_000251.2:c.211+98T>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47637065C>T - - - MSH2_000203 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 ?/. - - - - - 2i NM_000251.2:c.367-168C>T - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47656801G>A - - - MSH2_000881 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 6i NM_000251.2:c.1077-80G>A - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47693706G>T - - - MSH2_000975 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 9i NM_000251.2:c.1511-91G>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47693788A>T - - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 9i NM_000251.2:c.1511-9A>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.47693959G>A - - - MSH2_000995 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 -/. - - - - - 10i NM_000251.2:c.1661+12G>A - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48018314T>A - - - MSH6_000032 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 2i NM_000179.2:c.457+52T>A - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48023115T>C - - - MSH6_000928 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 3 NM_000179.2:c.540T>C - benign r.(?) p.(Asp180=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48025694C>T - - - MSH6_000050 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 3i NM_000179.2:c.628-56C>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48025764C>T - - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 4 NM_000179.2:c.642C>T - benign r.(?) p.(Tyr214=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48030458G>C - - - MSH6_000183 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 4i NM_000179.2:c.3173-101G>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48032572C>T - - - MSH6_000059 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 ?/. - - - - - 6i NM_000179.2:c.3557-185C>T - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48032613G>A - - - MSH6_000979 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 ?/. - - - - - 6i NM_000179.2:c.3557-144G>A - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48032881_48032884del - 3646+35_3646+38delATCT - MSH6_000534 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 7i NM_000179.2:c.3646+35_3646+38del - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48032937T>C - - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 7i NM_000179.2:c.3646+91T>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48033292_48033308del - 3647-51_3647-35del17 - MSH6_000251 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 7i NM_000179.2:c.3647-51_3647-35del - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48033548dup - 3802-43 dupT - MSH6_000271 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 8i NM_000179.2:c.3802-43 dup - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.48033551C>G - - - MSH6_000270 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 -/. - - - - - 8i NM_000179.2:c.3802-40C>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.37048633A>G - - - MLH1_001303 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 5i NM_000249.3:c.453+79A>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.37053568A>G - - - MLH1_000294 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 8 NM_000249.3:c.655A>G - benign r.(?) p.(Ile219Val) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.37062040T>C - - - MLH1_001065 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 11i NM_000249.3:c.1038+86T>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.37067050A>G - - - MLH1_001072 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 11i NM_000249.3:c.1039-78A>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.37083740A>G - - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 14i NM_000249.3:c.1668-19A>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.37090274C>T - - - MLH1_001237 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 17i NM_000249.3:c.1990-121C>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112101970T>C - - - APC_001755 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 3i NM_000038.5:c.136-53T>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112164561G>A - - - APC_001728 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 15 NM_000038.5:c.1635G>A - benign r.(?) p.(Ala545=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112175770G>A - - - APC_000494 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 17 NM_000038.5:c.4479G>A - benign r.(?) p.(Thr1493=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112176325A>G - - - APC_000497 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 17 NM_000038.5:c.5034G>A - benign r.(?) p.(Gly1678=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112176559T>G - - - APC_001691 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 17 NM_000038.5:c.5268T>G - benign r.(?) p.(Ser1756=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112176756T>A - - - APC_001694 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 17 NM_000038.5:c.5465T>A - benign r.(?) p.(Asp1822Val) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112177171G>A - - - APC_001697 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 17 NM_000038.5:c.5880G>A - benign r.(?) p.(Pro1960=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.112179909C>A - - - APC_001777 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso APC -/. - - - - - 17 NM_000038.5:c.*86C>A - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.6013049C>G - - - PMS2_000113 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 -/. - - - - - 15 NM_000535.5:c.2570G>C - benign r.(?) p.(Gly857Ala) - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.6022626C>T - - - PMS2_000151 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 -/. - - - - - 11i NM_000535.5:c.2007-4G>A - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.6026988G>A - - - PMS2_000116 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 -/. - - - - - 11 NM_000535.5:c.1408C>T - benign r.(?) p.(Pro470Ser) - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.6036980G>C - - - PMS2_000030 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 -/. - - - - - 7 NM_000535.5:c.780C>G - benign r.(?) p.(Ser260=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.6038722T>C - - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 -/. - - - - - 6i NM_000535.5:c.705+17A>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend