Individual #00155689

ID_report -
Reference contributed by Dept. of Dr Vaccaro
Remarks -
Gender -
Consanguinity -
Country Argentina
Population -
Age at 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     
0000156554 DNA SEQ - - - 24 Angela Solano & F Cardoso



Variants

24 entries on 1 page. Showing entries 1 - 24.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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) ?/. - VUS g.45796935G>C - - - MUTYH_000343 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH - - - - - 14i NM_001128425.1:c.1435-40C>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -/. - benign g.45797720C>G g.45332048C>G - - MUTYH_000346 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH - - - - - 12 NM_001128425.1:c.972G>C - r.(?) p.(Ser324=) - - - - - - - - - - - - - - - - - - -
1 Parent #1 ?/. - VUS g.45797890C>G - - - MUTYH_000347 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH - - - - - 10i NM_001128425.1:c.892-11G>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -/. - benign g.45798734T>C - - - MUTYH_000354 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH - - - - - 6i NM_001128425.1:c.462+35A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48010558C>A g.47783419C>A - - MSH6_000917 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 1 NM_000179.2:c.186C>A - r.(?) p.(Arg62=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48010654C>G g.47783515C>G - - MSH6_000013 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 1i NM_000179.2:c.260+22C>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 2 NM_000179.2:c.276A>G - r.(?) p.(Pro92=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48018314T>A g.47791175T>A - - MSH6_000032 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 2i NM_000179.2:c.457+52T>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48023115T>C g.47795976T>C - - MSH6_000928 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 3 NM_000179.2:c.540T>C - r.(?) p.(Asp180=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.48025694C>T g.47798555C>T - - MSH6_000050 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 3i NM_000179.2:c.628-56C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48030458G>C g.47803319G>C - - MSH6_000183 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 4i NM_000179.2:c.3173-101G>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48030838A>T g.47803699A>T - - MSH6_000215 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 5i NM_000179.2:c.3438+14A>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.48032613G>A g.47805474G>A - - MSH6_000979 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 6i NM_000179.2:c.3557-144G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48032881_48032884del g.47805742_47805745del 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 - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48032937T>C g.47805798T>C - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 7i NM_000179.2:c.3646+91T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48033551C>G g.47806412C>G - - MSH6_000270 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - - 8i NM_000179.2:c.3802-40C>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) -/. - benign g.37050254T>C g.37008763T>C - - MLH1_000225 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - - 5i NM_000249.3:c.454-51T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. - VUS g.37061720G>C g.37020229G>C - - MLH1_000911 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - - 10i NM_000249.3:c.885-81G>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Parent #1 -/. - benign g.37092179_37092181del g.37050688_37050690del *35_*37delCTT - MLH1_000813 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - - 19 NM_000249.3:c.*35_*37del - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) -/. - benign g.6013049C>G g.5973418C>G - - PMS2_000113 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 15 NM_000535.5:c.2570G>C - r.(?) p.(Gly857Ala) - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/. - benign g.6022626C>T g.5982995C>T - - PMS2_000151 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 11i NM_000535.5:c.2007-4G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/. - benign g.6026988G>A g.5987357G>A - - PMS2_000116 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 11 NM_000535.5:c.1408C>T - r.(?) p.(Pro470Ser) - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) -/. - benign g.6036980G>C g.5997349G>C - - PMS2_000030 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 7 NM_000535.5:c.780C>G - r.(?) p.(Ser260=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/. - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - - 6i NM_000535.5:c.705+17A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend