Variant #0000163506 (NC_000001.10:g.115258747C>T, NRAS(NM_002524.4):c.35G>A)

Individual ID 00100639
Chromosome 1
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.115258747C>T
DNA change (hg38) g.114716126C>T
Published as -
ISCN -
DB-ID NRAS_000004 See all 2 reported entries
Variant remarks -
Reference Altmüller et al, submitted
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Christina Lissewski
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NRAS NM_002524.4 +?/. 2 c.35G>A r.(?) p.(Gly12Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101056 DNA SEQ - - NRAS 1 Christina Lissewski