View genomic variant #0000000066

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.115258681G>A
Published as -
GERP 5.450
Segregation -
DB-ID NRAS_000007 See all 2 reported entries
MSCV MSCV_0000066
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NRAS 00003322 NM_002524.4 0000000066 ?/? c.101C>T p.(Pro34Leu) missense_variant - 2/7 probably_damaging(0.999) r.(?) deleterious(0.02)
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ClinVar @ MSeqDR

RCVaccession RCV000032848; RCV000208568;
Chromosome 1:115258681..115258681
ClinVar Allele ID 48246
Disease database name and identifier Human Phenotype Ontology:HP:0010816, MedGen:C0334082, OMIM:162900, Orphanet:ORPHA35125, SNOMED CT:25201003|MedGen:C0041409, OMIM:163950
ClinVar preferred disease name Epidermal nevus|Noonan syndrome 1
HGVS variant names NC 000001.10:g.115258681G>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:164790.0006|UniProtKB (protein):P01111#VAR 071130
Gene symbol:Gene id. NRAS:4893
Molecular consequence SO:0001583|missense variant
Allele origin
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