Genomic variant #0000000066

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.115258681G>A
Published as -
GERP 5.450
Segregation -
DB-ID NRAS_000007
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NRAS NM_002524.4 ?/? c.101C>T p.(Pro34Leu) missense_variant - 2/7 probably_damaging(0.999) r.(?) deleterious(0.02)


ClinVar @ MSeqDR

48246
Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003|MedGen:C0041409,OMIM:163950
Epidermal nevus|Noonan syndrome 1
HGVS variant names NC 000001.10:g.115258681G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:164790.0006|UniProtKB (protein):P01111#VAR 071130
Gene symbol:Gene id. NRAS:4893
SO:0001583|missense variant
3
dbSNP ID 397514553
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None