Variant #0000248914 (NC_000007.13:g.87160618A>C, ABCB1(NM_000927.4):c.2677T>G)

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.87160618A>C
DNA change (hg38) g.87531302A>C
Published as ABCB1(NM_000927.4):c.2677T>G (p.S893A)
ISCN -
DB-ID ABCB1_000008
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) 0.53683 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.2677T>G r.(?) p.(Ser893Ala)
RUNDC3B NM_138290.2 -/. - c.-97522A>C r.(?) p.(=)