Variant #0000502581 (NC_000001.10:g.115258747C>G, NRAS(NM_002524.4):c.35G>C)

Chromosome 1
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.115258747C>G
DNA change (hg38) g.114716126C>G
Published as NRAS(NM_002524.3):c.35G>C (p.G12A)
ISCN -
DB-ID CSDE1_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NRAS NM_002524.4 +/. - c.35G>C r.(?) p.(Gly12Ala)
CSDE1 NM_007158.5 +/. - c.*2043G>C r.(=) p.(=)