Variant #0000514696 (NC_000002.11:g.220083049A>C, ABCB6(NM_005689.2):c.347T>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.220083049A>C
DNA change (hg38) g.219218327A>C
Published as ABCB6(NM_005689.2):c.347T>G (p.L116R)
ISCN -
DB-ID ABCB6_000030
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB6 NM_005689.2 -?/. - c.347T>G r.(?) p.(Leu116Arg)
ATG9A NM_024085.3 -?/. - c.*2120T>G r.(=) p.(=)