Variant #0000667406 (NC_000019.9:g.15303043A>C, NOTCH3(NM_000435.2):c.407T>G)

Individual ID 00302889
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15303043A>C
DNA change (hg38) g.15192232A>C
Published as -
ISCN -
DB-ID NOTCH3_000368
Variant remarks ACMG grading: PM2
individual not affected at age 40y, father several strokes, not available for testing
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2020-06-03 15:07:02 +02:00 (CEST)
Date last edited 2020-06-11 08:34:29 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 ?/. - c.407T>G r.(?) p.(Val136Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304015 DNA SEQ-NG-S - - - 1 Andreas Laner