Variant #0000542354 (NC_000011.9:g.111908137G>A, NM_001931.4:c.928G>A (DLAT))

Chromosome 11
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.111908137G>A
DNA change (hg38) g.112037413G>A
Published as DLAT(NM_001931.4):c.928G>A (p.E310K), DLAT(NM_001931.5):c.928G>A (p.E310K)
ISCN -
DB-ID DLAT_000010 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) 0.0015 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DLAT NM_001931.4 -?/. - c.928G>A r.(?) p.(Glu310Lys)


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