Individual #00155674

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
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156539 DNA SEQ - - - 25 Angela Solano & F Cardoso



Variants

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

Allele     

Effect     

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Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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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 - - - 0 - Angela Solano & F Cardoso MUTYH - - - - 14i NM_001128425.1:c.1435-40C>G - 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.(=) - - - - - - - - - - - - - - - - - - -
1 Parent #1 ?/. - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MUTYH - - - - 1 NM_001128425.1:c.-127C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. - 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 Parent #1 -/. - 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 Parent #1 -/. - benign g.48025764C>T g.47798625C>T - - MSH6_000161 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - 4 NM_000179.2:c.642C>T - r.(?) p.(Tyr214=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. - 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) -?/. - likely benign g.48030462T>C g.47803323T>C - - MSH6_001098 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - 4i NM_000179.2:c.3173-97T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. - 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 Parent #1 ?/. - VUS g.48032572C>T g.47805433C>T - - MSH6_000059 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso 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 - - - 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 Parent #1 -/. - benign g.48033548dup g.47806409dup 3802-43 dupT - MSH6_000271 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MSH6 - - - - 8i NM_000179.2:c.3802-43dup - 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 Parent #1 -/. - benign g.37034946G>A g.36993455G>A - - MLH1_001761 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso MLH1 - - - - 1 NM_000249.3:c.-93G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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_000535.6: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_000535.6:c.1408C>T - r.(?) p.(Pro470Ser) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. - VUS g.6035021C>A g.5995390C>A - - PMS2_000443 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - 8i NM_000535.6:c.903+144G>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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_000535.6: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_000535.6:c.705+17A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. - VUS g.6041897T>C g.6002266T>C - - PMS2_000447 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - 5i NM_000535.6:c.537+187A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - 1i NM_000535.6:c.23+72C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/. - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso PMS2 - - - - 1 NM_000535.6:c.-154C>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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