Variant #0000786646 (NC_000011.9:g.534285C>T, HRAS(NM_005343.2):c.38G>A)

Individual ID 00374112
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.534285C>T
DNA change (hg38) g.534285C>T
Published as -
ISCN -
DB-ID HRAS_000010 See all 2 reported entries
Variant remarks -
Reference PubMed: Lefebvre 2021
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HRAS NM_005343.2 +/. - c.38G>A r.(?) p.(Gly13Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375305 DNA SEQ-NG - WES HRAS 1 Johan den Dunnen