Individual #00155667

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     
0000156532 DNA SEQ - - - 35 Angela Solano & F Cardoso



Variants

35 entries on 1 page. Showing entries 1 - 35.
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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     

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P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Parent #1 -?/. g.45795098C>T - - - MUTYH_000343 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH - - - - - 16 NM_001128425.1:c.1530G>A - likely benign r.(?) p.(Arg510=) - - - - - - - - - - - - - - - - - - -
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 Parent #1 -/. g.45797720C>G - - - MUTYH_000346 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH - - - - - 12 NM_001128425.1:c.972G>C - benign r.(?) p.(Ser324=) - - - - - - - - - - - - - - - - - - -
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.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.48030838A>T - - - MSH6_000215 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 5i NM_000179.2:c.3438+14A>T - benign 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 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 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 Parent #1 -/. 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 Parent #1 -/. 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.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.6035021C>A - - - PMS2_000443 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 8i NM_000535.5:c.903+144G>T - VUS 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.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.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. g.6041897T>C - - - PMS2_000447 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 5i NM_000535.5:c.537+187A>G - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/. g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 1 NM_000535.5:c.-154C>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32899388A>C - - - BRCA2_001575 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 4i NM_000059.3:c.425+67A>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32906480A>C - - - BRCA2_000047 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 10 NM_000059.3:c.865A>C - benign r.(?) p.(Asn289His) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32906980A>G - - - BRCA2_000058 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 10 NM_000059.3:c.1365A>G - benign r.(?) p.(Ser455=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32910351G>T - - - BRCA2_001253 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 10i NM_000059.3:c.1910-51G>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32910721T>C - - - BRCA2_000074 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 11 NM_000059.3:c.2229T>C - benign r.(?) p.(His743=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32911463A>G - - - BRCA2_000085 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 11 NM_000059.3:c.2971A>G - benign r.(?) p.(Asn991Asp) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32912299T>C - - - BRCA2_000096 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 11 NM_000059.3:c.3807T>C - benign r.(?) p.(Val1269=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32936646T>C - - - BRCA2_000233 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 16i NM_000059.3:c.7806-14T>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 -/- g.32953388T>C - - - BRCA2_001081 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 21i NM_000059.3:c.8755-66T>C - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
17 Parent #1 -/- g.41244429C>T - - - BRCA1_000233 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 11 NM_007294.3:c.3119G>A - benign r.(?) p.(Ser1040Asn) - - - - - - - - - - - - - - - - - - -
17 Parent #1 -/. g.41245027G>A - - - BRCA1_000207 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 11 NM_007294.3:c.2521C>T - benign r.(?) p.(Arg841Trp) - - - - - - - - - - - - - - - - - - -
17 Parent #1 -/- g.41251931G>A - - - BRCA1_000085 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 7i NM_007294.3:c.442-34C>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend