Variant #0000267406 (NC_000011.9:g.111896251G>C, NM_001931.4:c.55G>C (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.111896251G>C
DNA change (hg38) g.112025527G>C
Published as DLAT(NM_001931.4):c.55G>C (p.(Glu19Gln)), DLAT(NM_001931.5):c.55G>C (p.E19Q)
ISCN -
DB-ID DLAT_000001 See all 3 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) 0.00742 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DIXDC1 NM_001037954.2 -?/. - c.*6491G>C r.(=) p.(=)
DLAT NM_001931.4 -?/. - c.55G>C r.(?) p.(Glu19Gln)


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