Variant #0000002940 (NC_000007.14:g.186947T>A, NM_001348944.2:c.2677T>A (ABCB1))

Individual ID 00000715
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.186947T>A
Published as -
Reference Zalina Zahari et al.(2018)
DB-ID ABCB1_000006
dbSNP ID rs2032582
Frequency 49.7%
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-06-27 15:37:06 +08:00 (CST)
Date last edited 2021-08-01 13:12:21 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ABCB1 NM_001348944.2 +/. 21 c.2677T>A - r.(?) p.(Ser893Thr) - Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000807 DNA PCR ABCB1 4 Nur Aisyah Athirah