chr1:114713911:C>T Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,256,532-115,256,532 View the variant detail on this assembly version.
hg38 chr1:114,713,911-114,713,911

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.179G>A NP_002515.1:p.Gly60Glu
Ensemble ENST00000369535.5:c.179G>A ENST00000369535.5:p.Gly60Glu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM28673 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000073
(TMGS000185) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-08-01 criteria provided, single submitter Noonan syndrome 6 germline Detail
Pathogenic 2022-02-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
not provided no assertion provided Noonan syndrome 1 germline Detail
Pathogenic 2022-07-11 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2023-03-03 criteria provided, single submitter NRAS-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Noonan syndrome 6 NA CLINVAR Detail
<0.001 Developmental Disabilities Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12... BeFree 21263000 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND Noonan syndrome 6 ClinVar Detail
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND not provided ClinVar Detail
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND Noonan syndrome 1 ClinVar Detail
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND RASopathy ClinVar Detail
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND NRAS-related disorder ClinVar Detail
NA DisGeNET Detail
Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included... 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
rs267606920 dbSNP
Genome
hg38
Position
chr1:114,713,911-114,713,911
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser