Variant #0000660684 (NC_000001.10:g.115258711A>T, NRAS(NM_002524.4):c.71T>A)

Individual ID 00296865
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.115258711A>T
DNA change (hg38) g.114716090A>T
Published as -
ISCN -
DB-ID NRAS_000007 See all 5 reported entries
Variant remarks ACMG class 4 (PS2, PM2, PM5, PP3); Runtuwene et al. 2011. DisModelMech 4: 393
Reference -
ClinVar ID -
dbSNP ID rs869025573
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NRAS NM_002524.4 +?/. - c.71T>A r.(?) p.(Ile24Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297975 DNA SEQ-NG-S - - - 1 Andreas Laner