Individual #00000411

Reference Wei Xiong Wen et al. (2018)
Gender -
Geographic origin Malaysia
Ethnic origin Indian
Population -
Remarks -
Microattribution -
Panel size 1
Diseases BRCA1
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 2021-02-15 14:26:14 +08:00 (CST)
Date last edited 2021-08-01 12:46:25 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000427 DNA MLPA;SEQ-NG-I BRCA1 14 Nuur Athirah Binti Mohd Daud



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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     
17 Unknown +/. g.43057078G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000015 rs80357123 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5251C>T - r.(?) p.(Arg1751*) - ClinVar
17 Unknown +/. g.43057117_43057118delCT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000066 rs1555576959 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.5211_5212delAG - r.(?) p.(Gly1738Argfs*91) - ClinVar
17 Unknown ?/. g.43071154G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000133 rs1060502325 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4760C>A - r.(?) p.(Ser1587*) - ClinVar
17 Unknown +/. g.43074443_43074444insCTCCT - Wei Xiong Wen et al. (2018) BRCA1_000132 - 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4562_4563insAGGAG - r.(?) p.(Asn1521Lysfs*29) - -
17 Unknown +/. g.43082434G>A - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0016), ClinVar BRCA1_000037 rs41293455 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.4327C>T - r.(?) p.(Arg1443*) - ClinVar
17 Unknown +/. g.43091924G>A - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0012), ClinVar BRCA1_000057 rs273897655 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.3607C>T - r.(?) p.(Arg1203*) - ClinVar
17 Unknown +/. g.43094477C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000109 rs80357472 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.1054G>T - r.(?) p.(Glu352*) - ClinVar
17 Unknown +/. g.43094681G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000123 rs397509330 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.850C>T - r.(?) p.(Gln284*) - ClinVar
17 Unknown +/. g.43094805delA - Wei Xiong Wen et al. (2018) BRCA1_000065 - 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.726delT - r.(?) p.(Ser242Argfs*5) - -
17 Unknown +/. g.43106518delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000125 rs273897662 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.150delA - r.(?) p.(Lys50Asnfs*19) - ClinVar
17 Unknown +/. g.43106534C>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000084 rs80358158 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.135-1G>C - r.spl? p.? - ClinVar
17 Unknown +/. g.43124028_43124029del - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0003), ClinVar BRCA1_000055 rs80357914 4/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.68_69del - r.(?) p.(Glu23Valfs*17) - -
17 Unknown +/. g.43124031dupT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000008 rs80357783 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.66dupA - r.(?) p.(Glu23Argfs*18) - ClinVar
17 Unknown +/. g.43124036del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000120 rs273902778 1/359 - Nuur Athirah Binti Mohd Daud BRCA1 - NM_007294.3:c.61del - r.(?) p.(Ile21Serfs*2) - ClinVar
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