Variant #0000863804 (NC_000015.9:g.40707653C>T, IVD(NM_002225.3):c.941C>T)

Chromosome 15
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40707653C>T
DNA change (hg38) -
Published as IVD(NM_001354597.2):c.884C>T (p.A295V), IVD(NM_002225.5):c.932C>T (p.A311V)
ISCN -
DB-ID IVD_000002 See all 5 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) 0.00066 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-05-09 16:01:56 +02:00 (CEST)
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.941C>T r.(?) p.(Ala314Val)