chr1:114716060:G>A Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,258,681-115,258,681 View the variant detail on this assembly version.
hg38 chr1:114,716,060-114,716,060

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.101C>T NP_002515.1:p.Pro34Leu
Ensemble ENST00000369535.5:c.101C>T ENST00000369535.5:p.Pro34Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164790 OMIM
HGNC 7989 HGNC
Ensembl ENSG00000213281 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3471679 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-04-01 no assertion criteria provided epidermal nevus somatic Detail
not provided no assertion provided Noonan syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 NEVUS, EPIDERMAL (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) AND Epidermal nevus ClinVar Detail
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) AND Noonan syndrome 1 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397514553 dbSNP
Genome
hg38
Position
chr1:114,716,060-114,716,060
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser