Individual #00155627

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     
0000156492 DNA SEQ - - - 25 Angela Solano & F Cardoso



Variants

25 entries on 1 page. Showing entries 1 - 25.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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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 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.47637301T>G - - - MSH2_000275 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH2 ?/. - - - - - 3 NM_000251.2:c.435T>G - VUS r.(?) p.(Ile145Met) - - - - - - - - - - - - - - - - - - -
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.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 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.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.37034946G>A - - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 -/. - - - - - 1 NM_000249.3:c.-93G>A - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Parent #1 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 Parent #1 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 Parent #1 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 Parent #1 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.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.6026942G>T - - - PMS2_000138 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 -/. - - - - - 11 NM_000535.5:c.1454C>A - benign r.(?) p.(Thr485Lys) - - - - - - - - - - - - - - - - - - -
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.6035065A>C - - - PMS2_000444 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 ?/. - - - - - 8i NM_000535.5:c.903+100T>G - VUS r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.6035081G>A - - - PMS2_000445 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 ?/. - - - - - 8i NM_000535.5:c.903+84C>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.6043386G>A - - - PMS2_000264 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 -/. - - - - - 4 NM_000535.5:c.288C>T - benign r.(?) p.(Ala96=) - - - - - - - - - - - - - - - - - - -
Legend