Variant #0000658512 (NC_000019.9:g.15302941T>C, NOTCH3(NM_000435.2):c.509A>G)

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.15302941T>C
DNA change (hg38) g.15192130T>C
Published as NOTCH3(NM_000435.2):c.509A>G (p.(His170Arg)), NOTCH3(NM_000435.3):c.509A>G (p.H170R)
ISCN -
DB-ID NOTCH3_000173 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) 0.00181 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 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOTCH3 NM_000435.2 -?/. - c.509A>G r.(?) p.(His170Arg)