chr1:114716123:C>G Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,258,744-115,258,744 View the variant detail on this assembly version.
hg38 chr1:114,716,123-114,716,123

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.38G>C NP_002515.1:p.Gly13Ala
Ensemble ENST00000369535.5:c.38G>C ENST00000369535.5:p.Gly13Ala
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 COSM575 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.490 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.360 Noonan syndrome 6 NA CLINVAR Detail
<0.001 Monosomy Genetic analyses revealed that both cell populations bore +21, while a G13D muta... BeFree 25228298 Detail
0.360 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER NA CLINVAR Detail
0.001 Hematologic Neoplasms We show here that the salient features of ALPS as well as a predisposition to he... BeFree 17517660 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 mycosis fungoides One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) AND Melanoma ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genetic analyses revealed that both cell populations bore +21, while a G13D mutation of the NRAS gen... DisGeNET Detail
NA DisGeNET Detail
We show here that the salient features of ALPS as well as a predisposition to hematological malignan... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... 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
rs121434596 dbSNP
Genome
hg38
Position
chr1:114,716,123-114,716,123
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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