Individual #00155635

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     
0000156500 DNA SEQ - - - 15 Angela Solano & F Cardoso



Variants

15 entries on 1 page. Showing entries 1 - 15.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

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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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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.(?_47630330)_(47630542_47635539)del - deletion exon 1 - MSH2_000005 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 +/. - - - - - _1_1i NM_000251.2:c.(?_-1)_(211+1_212-1)del - pathogenic r.0? p.0? - - - - - - - - - - - - - - - - - - -
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.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 Both (homozygous) g.48018292del - 457+30delT - MSH6_001011 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 ?/. - - - - - 2i NM_000179.2:c.457+30del - VUS 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 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.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.190660683G>A - - - PMS1_000035 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS1 ?/. - - - - - 3i NM_000534.4:c.315+6G>A - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) 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 Both (homozygous) 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