Individual #00000548

Reference http://journalarticle.ukm.my/13243/1/33-85-1-PB.pdf
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HSCR
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000599 DNA PCR;SEQ RET 4 Nur Aisyah Athirah



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
10 Unknown +/. g.43100520A>G - Nor Azian Abdul Murad et al.(2017) RET_000002 rs1800858 - - Nur Aisyah Athirah RET 2 NM_020975.5:c.135A>G - r.(=) p.(=) - Risk-factor
10 Unknown +/. g.43111239A>G - Nor Azian Abdul Murad et al.(2017) RET_000003 rs1800860 - - Nur Aisyah Athirah RET 7 NM_020975.5:c.1296A>G - r.(=) p.(=) - Benign
10 Unknown +/. g.43114671G>A - Nor Azian Abdul Murad et al.(2017) RET_000004 rs1799939 - - Nur Aisyah Athirah RET 11 NM_020975.5:c.2071G>A - r.(?) p.(Gly691Ser) - Likely-Benign
10 Unknown +/. g.43118395G>T - Nor Azian Abdul Murad et al.(2017) RET_000001 rs1800861 - - Nur Aisyah Athirah RET 13 NM_020975.5:c.2307G>T - r.(=) p.(=) - -
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