Variant #0000725057 (NC_000015.9:g.40699856A>T, IVD(NM_002225.3):c.173A>T)

Chromosome 15
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.40699856A>T
DNA change (hg38) -
Published as IVD(NM_001354597.2):c.116A>T (p.K39M)
ISCN -
DB-ID IVD_000035
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) 0.00124 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 2021-02-08 18:36:18 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IVD NM_002225.3 -?/. - c.173A>T r.(?) p.(Lys58Met)