Individual #00000714

Reference Adiratna Mat Ripen et al.(2020)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases PID
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Primary immunodeficiency diseases (PID)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000259 Age at presentation: 7 years, has Upper Respiratory Tract Infection, Hepatosplenomegaly, Bronchiectasis, Anaemia, digital clubbing, persistent tachypnoea, failure to thrive. Passed away at 11 years - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000787 DNA PCR;SEQ CD19 1 Nur Aisyah Athirah
0000000789 DNA PCR;SEQ CD27 1 Nur Aisyah Athirah
0000000791 DNA PCR;SEQ CD86 1 Nur Aisyah Athirah
0000000793 DNA PCR;SEQ CR2 2 Nur Aisyah Athirah
0000000799 DNA PCR;SEQ ADAM28 1 Nur Aisyah Athirah
0000000800 DNA PCR;SEQ LRBA 1 Nur Aisyah Athirah
0000000801 DNA PCR;SEQ SDK1 2 Nur Aisyah Athirah
0000000802 DNA PCR;SEQ CTLA4 1 Nur Aisyah Athirah
0000000805 DNA PCR;SEQ STXBP2 1 Nur Aisyah Athirah
0000000806 DNA PCR;SEQ FANCA 6 Nur Aisyah Athirah



Variants

17 entries on 1 page. Showing entries 1 - 17.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
1 Unknown +/. g.23818G>A - Adiratna Mat Ripen et al.(2020) CR2_000001 rs17615 - - Nur Aisyah Athirah CR2 10 NM_001006658.3:c.1916G>A - r.(?) p.(Ser639Asn) - Damaging
1 Unknown +/. g.24279G>A - Adiratna Mat Ripen et al.(2020) CR2_000002 rs17616 - - Nur Aisyah Athirah CR2 11 NM_001006658.3:c.2012G>A - r.(?) p.(Arg671His) - Damaging
2 Unknown ?/. g.203867991A>G - Adiratna Mat Ripen et al.(2020) CTLA4_000004 rs231775 - - Nur Aisyah Athirah CTLA4 1 NM_005214.4:c.49A>G - r.(?) p.(Thr17Ala) - Benign
3 Unknown -/. g.53303G>A - Adiratna Mat Ripen et al.(2020) CD86_000001 rs2681417 - - Nur Aisyah Athirah CD86 3 NM_001206924.2:c.217G>A - r.(?) p.(Val73Ile) - Benign
4 Unknown ?/. g.150852441G>C - Adiratna Mat Ripen et al.(2020) LRBA_000001 rs1782360 - - Nur Aisyah Athirah LRBA 23 NM_001199282.2:c.3269C>G - r.(?) p.(Ala1090Gly) - Benign
7 Unknown ?/. g.714548G>A - Adiratna Mat Ripen et al.(2020) SDK1_000001 rs138116831 - - Nur Aisyah Athirah SDK1 15 NM_152744.4:c.2161G>A - r.(?) p.(Val721Ile) - Benign
7 Unknown -/. g.877896A>G - Adiratna Mat Ripen et al.(2020) SDK1_000002 rs671694 - - Nur Aisyah Athirah SDK1 7 NM_001079653.2:c.383A>G - r.(?) p.(His128Arg) - Benign
8 Unknown -/. g.64752G>A - Adiratna Mat Ripen et al.(2020) ADAM28_000001 rs7814768 - - Nur Aisyah Athirah ADAM28 22 NM_014265.6:c.2293G>A - r.(?) p.(Val765Met) - Benign
12 Unknown -/. g.11423G>A - Adiratna Mat Ripen et al.(2020) CD27_000001 rs2532502 - - Nur Aisyah Athirah CD27 6 NM_001242.5:c.698A>G - r.(?) p.(His233Arg) - Benign
16 Unknown ?/. g.5059T>A - Adiratna Mat Ripen et al.(2020) FANCA_000001 rs1800282 - - Nur Aisyah Athirah FANCA 1 NM_000135.4:c.17T>A - r.(?) p.(Val6Asp) - Benign
16 Unknown -/. g.6137C>G - Adiratna Mat Ripen et al.(2020) CD19_000001 rs2904880 - - Nur Aisyah Athirah CD19 3 NM_001178098.2:c.520C>G - r.(?) p.(Leu174Val) - Benign
16 Unknown ?/. g.30131C>T - Adiratna Mat Ripen et al.(2020) FANCA_000002 rs11646374 - - Nur Aisyah Athirah FANCA 14 NM_000135.4:c.1235C>T - r.(?) p.(Ala412Val) - Benign
16 Unknown ?/. g.38586G>A - Adiratna Mat Ripen et al.(2020) FANCA_000003 rs2239359 - - Nur Aisyah Athirah FANCA 16 NM_000135.4:c.1501G>A - r.(?) p.(Gly501Ser) - Benign
16 Unknown ?/. g.48300C>G - Adiratna Mat Ripen et al.(2020) FANCA_000004 rs17232910 - - Nur Aisyah Athirah FANCA 22 NM_000135.4:c.1927C>G - r.(?) p.(Pro643Ala) - Benign
16 Unknown ?/. g.51743G>A - Adiratna Mat Ripen et al.(2020) FANCA_000005 rs7195066 - - Nur Aisyah Athirah FANCA 26 NM_000135.4:c.2426G>A - r.(?) p.(Gly809Asp) - Benign
16 Unknown ?/. g.82152A>G - Adiratna Mat Ripen et al.(2020) FANCA_000006 rs9282681 - - Nur Aisyah Athirah FANCA 40 NM_000135.4:c.3982A>G - r.(?) p.(Thr1328Ala) - Benign
19 Unknown -/. g.15278A>G - Adiratna Mat Ripen et al.(2020) STXBP2_000001 rs6791 - - Nur Aisyah Athirah STXBP2 18 NM_001127396.3:c.1567A>G - r.(?) p.(Ile523Val) - Benign
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