Individual #00020914

Reference -
Gender F
Geographic origin Serres
Geographic origin Lamia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3
Owner name Despoina Kalfakakou


Phenotypes

Melanoma, cutaneous malignant, 3 (CMM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Subtype     

Owner     
0000012790 34y - - - - Epithelial, Spindle Cell Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001576 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
8 Parent #2 ./. g.90990595C>A - NBN_000047 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.481-44G>T r.(=) p.(=)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 ./. g.98211524G>A - PTCH1_000020 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3631C>T, NM_001083602.1:c.3433C>T, NM_001083603.1:c.3628C>T, NM_001083604.1:c.3178C>T, NM_001083605.1:c.3178C>T, NM_001083606.1:c.3178C>T, NM_001083607.1:c.3178C>T r.(?) p.(Pro1211Ser), p.(Pro1145Ser), p.(Pro1210Ser), p.(Pro1060Ser)
10 Parent #2 ./. g.88683209T>G - BMPR1A_000005 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1419T>G r.(=) p.(=)
10 Parent #2 ./. g.89711855_89711856insT - PTEN_000011 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.493-20_493-19insT r.(=) p.(=)
11 Parent #2 ./. g.111958677A>G - SDHD_000003 rs11214077 - - - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
14 Parent #2 ./. g.95584087T>C - DICER1_000019 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1381A>G, NM_001271282.1:c.1381A>G, NM_030621.3:c.1381A>G, NM_177438.2:c.1381A>G r.(?) p.(Ile461Val)
16 Parent #2 ./. g.2134982_2134984del - TSC2_000085 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
17 Parent #2 ./. g.7578420C>T - TP53_000026 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.510G>A, NM_001126112.2:c.510G>A, NM_001126113.2:c.510G>A, NM_001126114.2:c.510G>A, NM_001126115.1:c.114G>A, NM_001126116.1:c.114G>A, NM_001126117.1:c.114G>A, NM_001126118.1:c.393G>A, NM_001276695.1:c.393G>A, NM_001276696.1:c.393G>A, NM_001276697.1:c.33G>A, NM_001276698.1:c.33G>A, NM_001276699.1:c.33G>A, NM_001276760.1:c.393G>A, NM_001276761.1:c.393G>A r.(=) p.(=)
17 Parent #2 ./. g.74469185C>T - RHBDF2_000007 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
19 Parent #2 ./. g.1220486C>T - STK11_000038 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.579C>T r.(=) p.(=)
Legend