Variant #0000261650 (NC_000002.11:g.220082505G>A, ABCB6(NM_005689.2):c.574C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.220082505G>A
DNA change (hg38) g.219217783G>A
Published as ABCB6(NM_005689.2):c.574C>T (p.R192W)
ISCN -
DB-ID ABCB6_000018 See all 3 reported entries
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) 0.00163 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB6 NM_005689.2 ?/. - c.574C>T r.(?) p.(Arg192Trp)
ATG9A NM_024085.3 ?/. - c.*2664C>T r.(=) p.(=)