Variant #0000612709 (NC_000010.10:g.88439197A>G, LDB3(NM_007078.2):c.167A>G)

Chromosome 10
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.88439197A>G
DNA change (hg38) g.86679440A>G
Published as LDB3(NM_001171610.2):c.167A>G (p.N56S)
ISCN -
DB-ID LDB3_000247 See all 2 reported entries
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LDB3 NM_001080114.1 -?/. - c.167A>G r.(?) p.(Asn56Ser)
LDB3 NM_007078.2 -?/. - c.167A>G r.(?) p.(Asn56Ser)