Individual #00155669

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     
0000156534 DNA SEQ - - - 22 Angela Solano & F Cardoso



Variants

22 entries on 1 page. Showing entries 1 - 22.
Legend  

Chr     

Allele     

Effect     

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     

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     
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.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.48010558C>A - - - MSH6_000917 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 1 NM_000179.2:c.186C>A - benign r.(?) p.(Arg62=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. g.48010654C>G - - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 1i NM_000179.2:c.260+22C>G - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. g.48018081A>G - - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 2 NM_000179.2:c.276A>G - benign r.(?) p.(Pro92=) - - - - - - - - - - - - - - - - - - -
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.48026308C>G - - - MSH6_000118 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 4 NM_000179.2:c.1186C>G - benign r.(?) p.(Leu396Val) - - - - - - - - - - - - - - - - - - -
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.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.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 Unknown ?/. g.37053358G>T - - - MLH1_001892 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - - 7i NM_000249.3:c.588+5G>T - VUS r.spl? 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.37067120A>T - - - MLH1_002006 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - - 11i NM_000249.3:c.1039-8A>T - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Parent #1 -/. g.37070437G>A - - - MLH1_000539 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - - 13i NM_000249.3:c.1558+14G>A - 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.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 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.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) - - - - - - - - - - - - - - - - - - -
Legend