Variant #0000002941 (NC_000007.14:g.208920T>C, ABCB1(NM_001348946.2):c.3435T>C)

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.208920T>C
Published as -
Reference Zalina Zahari et al.(2018)
DB-ID ABCB1_000007
dbSNP ID rs1045642
Frequency 43.4%
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ABCB1 NM_001348946.2 +/. 26 c.3435T>C - r.(=) p.(=) - Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000807 DNA PCR ABCB1 4 Nur Aisyah Athirah