Individual #00020148

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases GC
Owner name Despoina Kalfakakou


Phenotypes

Gastric Cancer (GC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000013031 38y - - - III Positive - - Intestinal Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001425 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 ./. g.47637301T>G - MSH2_000032 rs63750124 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.435T>G, NM_001258281.1:c.237T>G r.(?) p.(Ile145Met), p.(Ile79Met)
2 Parent #2 ./. g.47702458T>G - MSH2_000039 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+49T>G, NM_001258281.1:c.1807+49T>G r.(=) p.(=)
3 Parent #2 ./. g.37061893T>C - MLH1_000017 rs63751049 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.977T>C, NM_001167617.1:c.683T>C, NM_001167618.1:c.254T>C, NM_001167619.1:c.254T>C, NM_001258271.1:c.977T>C, NM_001258273.1:c.254T>C, NM_001258274.1:c.254T>C r.(?) p.(Val326Ala), p.(Val228Ala), p.(Val85Ala)
3 Both (homozygous) ./. g.37067099del - MLH1_000095 rs67853601 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-29del, NM_001167617.1:c.745-29del, NM_001167618.1:c.316-29del, NM_001167619.1:c.316-29del, NM_001258271.1:c.1039-29del, NM_001258273.1:c.316-29del, NM_001258274.1:c.316-29del r.(=) p.(=)
7 Parent #2 ./. g.6042129G>A - PMS2_000033 rs35311046 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.492C>T r.(=) p.(=)
7 Parent #2 ./. g.6042143G>T - PMS2_000043 rs36038802 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
7 Parent #2 ./. g.6043314G>T - PMS2_000051 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.353+7C>A r.(=) p.(=)
10 Parent #2 ./. g.72357763A>G - PRF1_000016 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
10 Parent #2 ./. g.72358886G>A - PRF1_000035 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.591C>T, NM_005041.4:c.591C>T r.(=) p.(=)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ./. g.45606290C>T - FANCM_000011 rs77374493 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
15 Parent #2 ./. g.89838176T>G - FANCI_000010 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
16 Parent #2 ./. g.2105565C>G - TSC2_000245 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.599+45C>G, NM_001077183.1:c.599+45C>G, NM_001114382.1:c.599+45C>G r.(=) p.(=)
16 Parent #2 ./. g.68855966G>A - CDH1_000014 rs35187787 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
16 Parent #2 ./. g.89845197G>A - FANCA_000005 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 ./. g.17131216G>A - FLCN_000043 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.236C>T, NM_144997.5:c.236C>T r.(?) p.(Ser79Leu)
22 Parent #2 ./. g.29085075G>T - CHEK2_000028 rs4035546 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1671+48C>A, NM_001257387.1:c.879+48C>A, NM_007194.3:c.1542+48C>A, NM_145862.2:c.1455+48C>A r.(=) p.(=)
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