Individual #00155662

ID_report -
Reference contributed by Dept. of Dr Vaccaro
Remarks -
Gender -
Consanguinity -
Country Argentina
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name CEMIC - Genotyping - Angela Solano
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-11-15 18:25:58 +01:00 (CET)
Date last edited N/A


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156527 DNA SEQ - - - 23 CEMIC - Genotyping - Angela Solano



Variants

23 entries on 1 page. Showing entries 1 - 23.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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IDbase Accession Number     

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mRNA level     

Predict-BioInf     

Legacy protein change     

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 - - - - - CEMIC - Genotyping - Angela Solano MUTYH - - - - 14i NM_001128425.1:c.1435-40C>G - r.(?) p.(=) - - - - - - - - - - - - - -
1 Parent #1 -/. - benign g.45797720C>G g.45332048C>G - - MUTYH_000346 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MUTYH - - - - 12 NM_001128425.1:c.972G>C - r.(?) p.(Ser324=) - - - - - - - - - - - - - -
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 - - - - - CEMIC - Genotyping - Angela Solano MUTYH - - - - 6i NM_001128425.1:c.462+35A>G - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.47630639T>C g.47403500T>C - - MSH2_001106 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH2 - - - - 1i NM_000251.2:c.211+98T>C - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.47656801G>A g.47429662G>A - - MSH2_000881 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH2 - - - - 6i NM_000251.2:c.1077-80G>A - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.47690162G>T g.47463023G>T - - MSH2_000395 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH2 - - - - 8i NM_000251.2:c.1387-8G>T - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.47698179A>G g.47471040A>G - - MSH2_000218 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH2 - - - - 11 NM_000251.2:c.1737A>G - r.(?) p.(Lys579=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.48018314T>A g.47791175T>A - - MSH6_000032 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 2i NM_000179.2:c.457+52T>A - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.48023115T>C g.47795976T>C - - MSH6_000928 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano 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 - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 3i NM_000179.2:c.628-56C>T - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 4 NM_000179.2:c.642C>T - r.(?) p.(Tyr214=) - - - - - - - - - - - - - -
2 Both (homozygous) -/. - benign g.48030458G>C g.47803319G>C - - MSH6_000183 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 4i NM_000179.2:c.3173-101G>C - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.48030838A>T g.47803699A>T - - MSH6_000215 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 5i NM_000179.2:c.3438+14A>T - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 ?/. - VUS g.48032572C>T g.47805433C>T - - MSH6_000059 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 6i NM_000179.2:c.3557-185C>T - r.(?) p.(=) - - - - - - - - - - - - - -
2 Both (homozygous) ?/. - VUS g.48032613G>A g.47805474G>A - - MSH6_000979 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano 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 - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 7i NM_000179.2:c.3646+35_3646+38del - r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 -/. - benign g.48032937T>C g.47805798T>C - - MSH6_000249 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano 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 - - - - - CEMIC - Genotyping - Angela Solano MSH6 - - - - 8i NM_000179.2:c.3802-40C>G - r.(?) p.(=) - - - - - - - - - - - - - -
3 Parent #1 -/. - benign g.37048633A>G g.37007142A>G - - MLH1_001303 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MLH1 - - - - 5i NM_000249.3:c.453+79A>G - r.(?) p.(=) - - - - - - - - - - - - - -
3 Parent #1 -/. - benign g.37062040T>C g.37020549T>C - - MLH1_001065 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MLH1 - - - - 11i NM_000249.3:c.1038+86T>C - r.(?) p.(=) - - - - - - - - - - - - - -
3 Parent #1 -/. - benign g.37067050A>G g.37025559A>G - - MLH1_001072 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MLH1 - - - - 11i NM_000249.3:c.1039-78A>G - r.(?) p.(=) - - - - - - - - - - - - - -
3 Parent #1 -/. - benign g.37083740A>G g.37042249A>G - - MLH1_000585 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MLH1 - - - - 14i NM_000249.3:c.1668-19A>G - r.(?) p.(=) - - - - - - - - - - - - - -
3 Parent #1 -/. - benign g.37090274C>T g.37048783C>T - - MLH1_001237 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - CEMIC - Genotyping - Angela Solano MLH1 - - - - 17i NM_000249.3:c.1990-121C>T - r.(?) p.(=) - - - - - - - - - - - - - -
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