Variant #0000248596 (NC_000007.13:g.87138645A>G, ABCB1(NM_000927.4):c.3435T>C)

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.87138645A>G
DNA change (hg38) g.87509329A>G
Published as ABCB1(NM_000927.4):c.3435T>C (p.I1145=)
ISCN -
DB-ID ABCB1_000011
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.50215 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB1 NM_000927.4 -/. - c.3435T>C r.(?) p.(Ile1145=)
RUNDC3B NM_138290.2 -/. - c.-119495A>G r.(?) p.(=)