Variant #0000298666 (NC_000019.9:g.15303305G>A, NOTCH3(NM_000435.2):c.223C>T)

Chromosome 19
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.15303305G>A
DNA change (hg38) g.15192494G>A
Published as NOTCH3(NM_000435.3):c.223C>T (p.R75W)
ISCN -
DB-ID NOTCH3_000285
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) 4.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 -?/. - c.223C>T r.(?) p.(Arg75Trp)