Variant #0000526569 (NC_000006.11:g.105526501A>G, LIN28B(NM_001004317.3):c.596A>G)

Chromosome 6
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.105526501A>G
DNA change (hg38) g.105078626A>G
Published as LIN28B(NM_001004317.3):c.596A>G (p.(His199Arg))
ISCN -
DB-ID LIN28B_000001
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) 0.00349 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LIN28B NM_001004317.3 -?/. - c.596A>G r.(?) p.(His199Arg)