Individual #00155707

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     
0000156572 DNA SEQ - - - 30 Angela Solano & F Cardoso



Variants

30 entries on 1 page. Showing entries 1 - 30.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

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Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

Owner     

Gene     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Parent #1 ?/. 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 Parent #1 -/. 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.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.47637439C>T - - - MSH2_000171 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 - - - - - 3 NM_000251.2:c.573C>T - benign r.(?) p.(Leu191=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. 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.47657131C>A - - - MSH2_001618 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 - - - - - 7i NM_000251.2:c.1276+51C>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.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.47702038A>T - - - MSH2_001774 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 - - - - - 11i NM_000251.2:c.1760-126A>T - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. g.48010488G>A - - - MSH6_000915 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 1 NM_000179.2:c.116G>A - benign r.(?) p.(Gly39Glu) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. g.48022981G>T - - - MSH6_000041 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 2i NM_000179.2:c.458-52G>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. 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 Both (homozygous) ?/. 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.48032717T>A - - - MSH6_000364 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 6i NM_000179.2:c.3557-40T>A - benign 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 Both (homozygous) -/. 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 Both (homozygous) -/. 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 Parent #1 -/. g.37045960A>G - - - MLH1_001660 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - - 4 NM_000249.3:c.375A>G - benign r.(?) p.(Ala125=) - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/. g.6022629G>A - - - PMS2_000154 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 11i NM_000535.5:c.2007-7C>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) -/. 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.6043495T>C - - - PMS2_000012 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 3i NM_000535.5:c.251-72A>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/. g.6045627C>T - - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 2 NM_000535.5:c.59G>A - benign r.(?) p.(Arg20Gln) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 1i NM_000535.5:c.23+72C>T - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend