Variant #0000267415 (NC_000010.10:g.79616605T>C, DLG5(NM_004747.3):c.419A>G)

Chromosome 10
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.79616605T>C
DNA change (hg38) g.77856847T>C
Published as DLG5(NM_004747.4):c.419A>G (p.Q140R)
ISCN -
DB-ID DLG5_000005
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) 0.92999 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     
DLG5 NM_004747.3 -/. - c.419A>G r.(?) p.(Gln140Arg)