Variant #0000873621 (NC_000019.9:g.15302978C>T, NOTCH3(NM_000435.2):c.472G>A)

Individual ID 00414460
Chromosome 19
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.15302978C>T
DNA change (hg38) g.15192167C>T
Published as NOTCH3(NM_000435.2):c.472G>A(p.D158N)
ISCN -
DB-ID NOTCH3_000401 See all 2 reported entries
Variant remarks -
Reference PubMed: Sun 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency 227
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 +?/. - c.472G>A r.(?) p.(Asp158Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415740 DNA SEQ-NG-I blood - NOTCH3 1 LOVD