Individual #00000412

Reference Zainal Abidin et al.(2015)
Gender -
Geographic origin (Kuala Lumpur)
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases PD
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-15 14:47:44 +08:00 (CST)
Date last edited 2021-03-29 09:16:51 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000428 DNA MCA DRD1 2 Nur Aisyah Athirah
0000000429 DNA MCA GRIN2B 1 Nur Aisyah Athirah
0000000444 DNA MCA DRD2 1 Nur Aisyah Athirah
0000000445 DNA MCA DRD2 2 Nur Aisyah Athirah
0000000446 DNA MCA DRD3 2 Nur Aisyah Athirah
0000000447 DNA MCA DRD4 1 Nur Aisyah Athirah
0000000448 DNA MCA DRD5 1 Nur Aisyah Athirah



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
3 Unknown +/. g.114171942T>C - Zainal Abidin et al.(2015),ClinVar DRD3_000001 rs3732783 - - Nur Aisyah Athirah DRD3 - NM_000796.5:c.51A>G, NM_001282563.2:c.51A>G, NM_001290809.1:c.51A>G, NM_033663.5:c.51A>G - r.(=) p.(=) - -
3 Unknown +/. g.114171968C>T - Zainal Abidin et al.(2015), ClinVar DRD3_000002 rs6280 - - Nur Aisyah Athirah DRD3 - NM_000796.5:c.25G>A, NM_001282563.2:c.25G>A, NM_001290809.1:c.25G>A, NM_033663.5:c.25G>A - r.(?) p.(Gly9Ser) - -
4 Unknown +/. g.9784221G>T - Zainal Abidin et al.(2015) DRD5_000001 rs144132215 - - Nur Aisyah Athirah DRD5 - NM_000798.5:c.568G>T - r.(?) p.(Gly190Trp) - -
5 Unknown +/. g.174867899T>C - Zainal Abidin et al. (2015) DRD1_000002 rs4867798 - - Nur Aisyah Athirah DRD1 - NM_000794.4:c.*863A>G - r.(=) p.(=) - -
5 Unknown +/. g.174870150C>T - Zainal Abidin et al.(2018) DRD1_000001 rs4532 - - Nur Aisyah Athirah DRD1 - NM_000794.4:c.-48G>A - r.(=) p.(=) - Likely benign
11 Unknown +/. g.17316G>A - Zainal Abidin et al.(2015) DRD2_000001 rs1800497 - - Nur Aisyah Athirah DRD2 - NM_000795.3:c.*113393411C>T - r.(=) p.(=) - -
11 Unknown +/. g.639830T>G - Zainal Abidin et al.(2015), ClinVar DRD4_000001 rs1800443 - - Nur Aisyah Athirah DRD4 - NM_000797.4:c.581T>G - r.(?) p.(Val194Gly) - -
11 Unknown +/. g.113412654G>A - Zainal Abidin et al.(2015) DRD2_000003 rs144999500 - - Nur Aisyah Athirah DRD2 - NM_000795.3:c.1040C>T, NM_016574.3:c.953C>T - r.(?) p.(Pro347Leu), p.(Pro318Leu) - -
11 Unknown +/. g.113416935C>T - Zainal Abidin et al.(2015), ClinVar DRD2_000002 rs104894220 - - Nur Aisyah Athirah DRD2 - NM_000795.3:c.460G>A - r.(?) p.(Val154Ile) - -
12 Unknown +/. g.14018777G>C - Zainal Abidin et al. (2015) GRIN2B_000001 rs7301328 - - Nur Aisyah Athirah GRIN2B - NM_000834.4:c.366C>G, XM_011520629.2:c.366C>G, XM_017019219.2:c.366C>G - r.(=) (p.Pro122=), p.(=) - Benign
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