Individual #00000204

Reference K L Khoo et al. (2000)
Gender F
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases F8
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-01 13:19:21 +08:00 (CST)
Date last edited 2020-12-14 17:10:38 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000219 DNA DGGE;PCR LDLR 8 Nuur Athirah Binti Mohd Daud



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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     
19 Unknown +/. g.11102787G>A G>A at 313+1 K L Khoo et al. (2000), ClinVar, (OMIM 0054) LDLR_000031 - 1/10 - Nuur Athirah Binti Mohd Daud LDLR 3i NM_000527.4:c.313+1G>A - r.spl? p.? - -
19 Unknown +/. g.11106627C>T CGG>TGG at 757 K L Khoo et al. (2000), ClinVar LDLR_000041 - 1/10 - Nuur Athirah Binti Mohd Daud LDLR 5 NM_000527.4:c.757C>T - r.(?) p.(Arg253Trp) - -
19 Unknown +/. g.11110697G>A TGC>TAC at 986 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000045 rs761954844 2/10 - Nuur Athirah Binti Mohd Daud LDLR 7 NM_000527.4:c.986G>A - r.(?) p.(Cys329Tyr) - ClinVar
19 Unknown +/. g.11111585C>T CAG>TAG at 1132 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000046 rs879254802 1/10 - Nuur Athirah Binti Mohd Daud LDLR 8 NM_000527.4:c.1132C>T - r.(?) p.(Gln378*) - ClinVar
19 Unknown +/. g.11113332T>G CTG>CGG at 1242 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000047 rs748554592 2/10 - Nuur Athirah Binti Mohd Daud LDLR 9 NM_000527.4:c.1241T>G - r.(?) p.(Leu414Arg) - ClinVar
19 Unknown +/. g.11113608G>A GGG>AGG at 1432 K L Khoo et al. (2000), ClinVar LDLR_000048 - 1/10 - Nuur Athirah Binti Mohd Daud LDLR 10 NM_000527.4:c.1432G>A - r.(?) p.(Gly478Arg) - -
19 Unknown +/. g.11113650G>A GAC>AAC at 1474 K L Khoo et al. (2000), ClinVar LDLR_000049 - 1/10 - Nuur Athirah Binti Mohd Daud LDLR 10 NM_000527.4:c.1474G>A - r.(?) p.(Asp492Asn) - -
19 Unknown +/. g.11120490_11120496dup TGCTGGCins2108 K L Khoo et al. (2000), dbSNP, ClinVar LDLR_000050 rs879255141 1/10 - Nuur Athirah Binti Mohd Daud LDLR 14 NM_000527.4:c.2108_2114dup - r.(?) p.(Arg706Alafs*13) - ClinVar
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