|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Tumour mutation status and sites of metastasis in patients with cutaneous melanoma. | Adler NR, etal., Br J Cancer. 2017 Sep 26;117(7):1026-1035. doi: 10.1038/bjc.2017.254. Epub 2017 Aug 8. |
2. | Activation of RAS family genes in urothelial carcinoma. | Boulalas I, etal., J Urol. 2009 May;181(5):2312-9. Epub 2009 Mar 19. |
3. | Somatic integration of an oncogene-harboring Sleeping Beauty transposon models liver tumor development in the mouse. | Carlson CM, etal., Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17059-64. doi: 10.1073/pnas.0502974102. Epub 2005 Nov 14. |
4. | Comparison of liver oncogenic potential among human RAS isoforms. | Chung SI, etal., Oncotarget. 2016 Feb 9;7(6):7354-66. doi: 10.18632/oncotarget.6931. |
5. | Neuroblastoma RAS Viral Oncogene Homolog (NRAS) Is a Novel Prognostic Marker and Contributes to Sorafenib Resistance in Hepatocellular Carcinoma. | Dietrich P, etal., Neoplasia. 2019 Mar;21(3):257-268. doi: 10.1016/j.neo.2018.11.011. Epub 2019 Jan 25. |
6. | Clonal architectures and driver mutations in metastatic melanomas. | Ding L, etal., PLoS One. 2014 Nov 13;9(11):e111153. doi: 10.1371/journal.pone.0111153. eCollection 2014. |
7. | NRAS mutations in de novo acute leukemia: prevalence and clinical significance. | Dunna NR, etal., Indian J Biochem Biophys. 2014 Jun;51(3):207-10. |
8. | Metastatic Pattern of Stage IV Colorectal Cancer with High-Frequency Microsatellite Instability as a Prognostic Factor. | Fujiyoshi K, etal., Anticancer Res. 2017 Jan;37(1):239-247. doi: 10.21873/anticanres.11313. |
9. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
10. | The inv(3)(q21q26)/t(3;3)(q21;q26) is frequently accompanied by alterations of the RUNX1, KRAS and NRAS and NF1 genes and mediates adverse prognosis both in MDS and in AML: a study in 39 cases of MDS or AML. | Haferlach C, etal., Leukemia. 2011 May;25(5):874-7. doi: 10.1038/leu.2011.5. Epub 2011 Feb 1. |
11. | AKT (v-akt murine thymoma viral oncogene homolog 1) and N-Ras (neuroblastoma ras viral oncogene homolog) coactivation in the mouse liver promotes rapid carcinogenesis by way of mTOR (mammalian target of rapamycin complex 1), FOXM1 (forkhead box M1)/SKP2, and c-Myc pathways. | Ho C, etal., Hepatology. 2012 Mar;55(3):833-45. doi: 10.1002/hep.24736. Epub 2011 Dec 19. |
12. | Expression of N-ras gene in human primary hepatocarcinoma. | Hu LF, etal., Sci Sin B. 1986 Feb;29(2):181-6. |
13. | Detection of multiple gene amplifications in glioblastoma multiforme using array-based comparative genomic hybridization. | Hui AB, etal., Lab Invest. 2001 May;81(5):717-23. |
14. | RAS oncogene suppression induces apoptosis followed by more differentiated and less myelosuppressive disease upon relapse of acute myeloid leukemia. | Kim WI, etal., Blood. 2009 Jan 29;113(5):1086-96. doi: 10.1182/blood-2008-01-132316. Epub 2008 Oct 24. |
15. | Mutation analysis of the Ras pathway genes NRAS, HRAS, KRAS and BRAF in glioblastomas. | Knobbe CB, etal., Acta Neuropathol. 2004 Dec;108(6):467-70. doi: 10.1007/s00401-004-0929-9. Epub 2004 Oct 28. |
16. | The ability of endogenous Nras oncogenes to initiate leukemia is codon-dependent. | Kong G, etal., Leukemia. 2016 Sep;30(9):1935-8. doi: 10.1038/leu.2016.89. Epub 2016 Apr 25. |
17. | Cia5d regulates a new fibroblast-like synoviocyte invasion-associated gene expression signature. | Laragione T, etal., Arthritis Res Ther. 2008 Aug 15;10(4):R92. |
18. | Transcriptional activation of H- and N-ras oncogenes in human cervical cancer. | Mammas IN, etal., Gynecol Oncol. 2004 Mar;92(3):941-8. |
19. | Mutation of NRAS but not KRAS significantly reduces myeloma sensitivity to single-agent bortezomib therapy. | Mulligan G, etal., Blood. 2014 Jan 30;123(5):632-9. doi: 10.1182/blood-2013-05-504340. Epub 2013 Dec 11. |
20. | NRAS mutations with low allele burden have independent prognostic significance for patients with lower risk myelodysplastic syndromes. | Murphy DM, etal., Leukemia. 2013 Oct;27(10):2077-81. doi: 10.1038/leu.2013.160. Epub 2013 May 27. |
21. | CD4+ T cells from patients with primary biliary cholangitis show T cell activation and differentially expressed T-cell receptor repertoires. | Nakagawa R, etal., Hepatol Res. 2019 Jun;49(6):653-662. doi: 10.1111/hepr.13318. Epub 2019 Feb 26. |
22. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
23. | Loss of heterozygosity at the N-ras locus in 7,12-dimethylbenz anthracene-induced rat leukemia. | Osaka M, etal., Mol Carcinog. 1997 Apr;18(4):206-12. |
24. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
25. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
26. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
27. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
28. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
29. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
30. | MEK1/2 dual-specificity protein kinases: Structure and regulation. | Roskoski R Jr Biochem Biophys Res Commun. 2012 Jan 6;417(1):5-10. Epub 2011 Dec 8. |
31. | An increase in N-Ras expression is associated with development of hormone refractory prostate cancer in a subset of patients. | Traynor P, etal., Dis Markers. 2008;24(3):157-65. |
32. | Diabetes increases both N-ras and ets-1 expression during rat oral oncogenesis resulting in enhanced cell proliferation and metastatic potential. | Vairaktaris E, etal., In Vivo. 2007 Jul-Aug;21(4):615-21. |
33. | Ras gene mutations in 7,12-dimethylbenzanthracene (DMBA)-induced rat sarcomas. | Walentinsson A and Levan G, Cancer Lett. 2001 May 10;166(1):47-53. |
34. | Endogenous oncogenic Nras mutation initiates hematopoietic malignancies in a dose- and cell type-dependent manner. | Wang J, etal., Blood. 2011 Jul 14;118(2):368-79. doi: 10.1182/blood-2010-12-326058. Epub 2011 May 17. |
35. | Deficiency of beta Common Receptor Moderately Attenuates the Progression of Myeloproliferative Neoplasm in NrasG12D/+ Mice. | Zhang J, etal., J Biol Chem. 2015 Jul 31;290(31):19093-103. doi: 10.1074/jbc.M115.653154. Epub 2015 Jun 16. |
PMID:1692298 | PMID:1970154 | PMID:2661017 | PMID:2991860 | PMID:2998510 | PMID:3057505 | PMID:3102434 | PMID:3276402 | PMID:3295562 | PMID:3856237 | PMID:3887133 | PMID:6086315 |
PMID:6587382 | PMID:6616621 | PMID:6705568 | PMID:7499408 | PMID:7766599 | PMID:7789166 | PMID:7820549 | PMID:7829101 | PMID:7972015 | PMID:8280380 | PMID:8493579 | PMID:8607982 |
PMID:8665852 | PMID:9069260 | PMID:9069267 | PMID:9269777 | PMID:9297626 | PMID:9344703 | PMID:9368069 | PMID:9488663 | PMID:9578425 | PMID:9674433 | PMID:9690470 | PMID:9753431 |
PMID:10412982 | PMID:10490827 | PMID:10655059 | PMID:10712923 | PMID:10783161 | PMID:10882715 | PMID:10918068 | PMID:11136978 | PMID:11332726 | PMID:11520933 | PMID:11524732 | PMID:11948427 |
PMID:12082607 | PMID:12230495 | PMID:12393454 | PMID:12477932 | PMID:12483530 | PMID:12637339 | PMID:12727991 | PMID:12783933 | PMID:12808105 | PMID:14688017 | PMID:14695152 | PMID:14737077 |
PMID:14961576 | PMID:15060167 | PMID:15474158 | PMID:15489334 | PMID:15531466 | PMID:15674343 | PMID:15688405 | PMID:15705808 | PMID:15761153 | PMID:15766527 | PMID:16000296 | PMID:16076867 |
PMID:16098042 | PMID:16135812 | PMID:16142319 | PMID:16169070 | PMID:16344560 | PMID:16462768 | PMID:16573741 | PMID:16737746 | PMID:16761621 | PMID:16845322 | PMID:16847854 | PMID:17036375 |
PMID:17056636 | PMID:17119447 | PMID:17297468 | PMID:17332249 | PMID:17507627 | PMID:17517660 | PMID:17550846 | PMID:17671710 | PMID:17712732 | PMID:17786355 | PMID:17893876 | PMID:17900235 |
PMID:17910045 | PMID:17943694 | PMID:17949898 | PMID:17960171 | PMID:18000091 | PMID:18006851 | PMID:18008004 | PMID:18227705 | PMID:18310288 | PMID:18316586 | PMID:18316589 | PMID:18323787 |
PMID:18375819 | PMID:18450602 | PMID:18559876 | PMID:18567617 | PMID:18615679 | PMID:18624398 | PMID:18632627 | PMID:18641128 | PMID:18667611 | PMID:18668139 | PMID:18701506 | PMID:18760455 |
PMID:18786395 | PMID:18788612 | PMID:18814281 | PMID:18945298 | PMID:18980976 | PMID:19037234 | PMID:19047918 | PMID:19101897 | PMID:19190079 | PMID:19309322 | PMID:19319568 | PMID:19322201 |
PMID:19351817 | PMID:19383313 | PMID:19460752 | PMID:19487299 | PMID:19492075 | PMID:19633643 | PMID:19705759 | PMID:19718661 | PMID:19759551 | PMID:19765726 | PMID:19789336 | PMID:19802003 |
PMID:19819220 | PMID:19833857 | PMID:19865112 | PMID:19874312 | PMID:19913121 | PMID:19946888 | PMID:19954345 | PMID:19966803 | PMID:20012784 | PMID:20056178 | PMID:20080631 | PMID:20098682 |
PMID:20140953 | PMID:20147298 | PMID:20150643 | PMID:20157749 | PMID:20192584 | PMID:20237506 | PMID:20301303 | PMID:20301390 | PMID:20371679 | PMID:20379614 | PMID:20392691 | PMID:20458337 |
PMID:20520634 | PMID:20526288 | PMID:20619739 | PMID:20628086 | PMID:20678218 | PMID:20680410 | PMID:20703244 | PMID:20713885 | PMID:20720566 | PMID:20726318 | PMID:20736745 | PMID:20815269 |
PMID:20824703 | PMID:20860430 | PMID:20880116 | PMID:20881644 | PMID:20975100 | PMID:21072204 | PMID:21107323 | PMID:21131919 | PMID:21134978 | PMID:21166657 | PMID:21168197 | PMID:21200020 |
PMID:21209378 | PMID:21263000 | PMID:21305640 | PMID:21358716 | PMID:21430505 | PMID:21478863 | PMID:21595878 | PMID:21615881 | PMID:21750866 | PMID:21757746 | PMID:21788131 | PMID:21796448 |
PMID:21809347 | PMID:21873635 | PMID:21908617 | PMID:21968647 | PMID:21988832 | PMID:22020736 | PMID:22120021 | PMID:22123847 | PMID:22130161 | PMID:22180178 | PMID:22199277 | PMID:22407852 |
PMID:22427190 | PMID:22456166 | PMID:22589270 | PMID:22614978 | PMID:22650231 | PMID:22753870 | PMID:22758774 | PMID:22773810 | PMID:22809251 | PMID:22820081 | PMID:22887781 | PMID:22912864 |
PMID:22926523 | PMID:22931913 | PMID:22939629 | PMID:22974165 | PMID:22983396 | PMID:22997201 | PMID:23000456 | PMID:23076151 | PMID:23096702 | PMID:23153525 | PMID:23201159 | PMID:23209302 |
PMID:23233531 | PMID:23240926 | PMID:23262097 | PMID:23303902 | PMID:23313659 | PMID:23362874 | PMID:23376485 | PMID:23392294 | PMID:23403319 | PMID:23423222 | PMID:23448684 | PMID:23477374 |
PMID:23496764 | PMID:23515407 | PMID:23536553 | PMID:23538902 | PMID:23619365 | PMID:23633454 | PMID:23664541 | PMID:23667841 | PMID:23673558 | PMID:23687087 | PMID:23739925 | PMID:23758196 |
PMID:23771122 | PMID:23774633 | PMID:23782496 | PMID:23795354 | PMID:23821376 | PMID:23833303 | PMID:23855428 | PMID:23860532 | PMID:23861977 | PMID:23922205 | PMID:23946963 | PMID:23987572 |
PMID:23993026 | PMID:24006476 | PMID:24006859 | PMID:24018645 | PMID:24024839 | PMID:24067137 | PMID:24129063 | PMID:24166518 | PMID:24189344 | PMID:24222113 | PMID:24412244 | PMID:24509877 |
PMID:24586049 | PMID:24588908 | PMID:24590757 | PMID:24603591 | PMID:24610751 | PMID:24666267 | PMID:24691006 | PMID:24703650 | PMID:24710085 | PMID:24714776 | PMID:24737308 | PMID:24746824 |
PMID:24758538 | PMID:24774510 | PMID:24798740 | PMID:24802725 | PMID:24806288 | PMID:24806883 | PMID:24820091 | PMID:24859998 | PMID:24866436 | PMID:24906137 | PMID:24918823 | PMID:24941944 |
PMID:24950457 | PMID:24962318 | PMID:25009008 | PMID:25048604 | PMID:25063807 | PMID:25105841 | PMID:25109485 | PMID:25150293 | PMID:25157176 | PMID:25158650 | PMID:25164765 | PMID:25227306 |
PMID:25252692 | PMID:25263998 | PMID:25316678 | PMID:25316818 | PMID:25337237 | PMID:25361812 | PMID:25363723 | PMID:25373533 | PMID:25385688 | PMID:25491172 | PMID:25609649 | PMID:25627962 |
PMID:25645078 | PMID:25659223 | PMID:25666295 | PMID:25695684 | PMID:25722211 | PMID:25736262 | PMID:25749811 | PMID:25767048 | PMID:25796376 | PMID:25815427 | PMID:25851630 | PMID:25858894 |
PMID:25886136 | PMID:25896945 | PMID:25901794 | PMID:25914220 | PMID:25920435 | PMID:25926041 | PMID:25997687 | PMID:25999051 | PMID:25999467 | PMID:26049686 | PMID:26090869 | PMID:26096079 |
PMID:26146664 | PMID:26181424 | PMID:26186194 | PMID:26220150 | PMID:26222068 | PMID:26225944 | PMID:26253102 | PMID:26260959 | PMID:26272610 | PMID:26282084 | PMID:26297254 | PMID:26305188 |
PMID:26318427 | PMID:26325669 | PMID:26393682 | PMID:26399561 | PMID:26426340 | PMID:26439863 | PMID:26440707 | PMID:26467218 | PMID:26471487 | PMID:26493479 | PMID:26496610 | PMID:26515069 |
PMID:26547216 | PMID:26547258 | PMID:26560143 | PMID:26562020 | PMID:26562302 | PMID:26575115 | PMID:26581482 | PMID:26597176 | PMID:26691448 | PMID:26701913 | PMID:26799668 | PMID:26807515 |
PMID:26862952 | PMID:26947772 | PMID:26973648 | PMID:26980032 | PMID:26989027 | PMID:27034005 | PMID:27076591 | PMID:27101548 | PMID:27111337 | PMID:27119512 | PMID:27121310 | PMID:27191502 |
PMID:27240832 | PMID:27342126 | PMID:27356691 | PMID:27382031 | PMID:27385790 | PMID:27391150 | PMID:27433783 | PMID:27449293 | PMID:27458004 | PMID:27488117 | PMID:27502397 | PMID:27502489 |
PMID:27556696 | PMID:27630302 | PMID:27634910 | PMID:27636997 | PMID:27696542 | PMID:27698462 | PMID:27737491 | PMID:27737711 | PMID:27741509 | PMID:27758885 | PMID:27768959 | PMID:27791198 |
PMID:27815357 | PMID:27886225 | PMID:27900779 | PMID:27911734 | PMID:27916952 | PMID:27936046 | PMID:28025078 | PMID:28074351 | PMID:28091917 | PMID:28097440 | PMID:28098151 | PMID:28100394 |
PMID:28116986 | PMID:28134726 | PMID:28162770 | PMID:28192189 | PMID:28198367 | PMID:28202657 | PMID:28249840 | PMID:28253523 | PMID:28259994 | PMID:28263956 | PMID:28284557 | PMID:28323937 |
PMID:28341702 | PMID:28353383 | PMID:28378457 | PMID:28380455 | PMID:28426398 | PMID:28446505 | PMID:28514442 | PMID:28551389 | PMID:28594414 | PMID:28630043 | PMID:28646021 | PMID:28668077 |
PMID:28680105 | PMID:28703285 | PMID:28714107 | PMID:28797232 | PMID:28822769 | PMID:28842324 | PMID:28853218 | PMID:28859058 | PMID:28864536 | PMID:28873354 | PMID:28947418 | PMID:29025887 |
PMID:29061376 | PMID:29101736 | PMID:29180316 | PMID:29187493 | PMID:29194647 | PMID:29198052 | PMID:29275866 | PMID:29280621 | PMID:29329780 | PMID:29332123 | PMID:29335867 | PMID:29397482 |
PMID:29495918 | PMID:29509190 | PMID:29564676 | PMID:29665313 | PMID:29666387 | PMID:29695835 | PMID:29708356 | PMID:29755118 | PMID:29777862 | PMID:29806051 | PMID:29921458 | PMID:29976257 |
PMID:30120967 | PMID:30145692 | PMID:30194290 | PMID:30210039 | PMID:30359577 | PMID:30361901 | PMID:30384563 | PMID:30442762 | PMID:30442766 | PMID:30484984 | PMID:30489482 | PMID:30518391 |
PMID:30542204 | PMID:30548225 | PMID:30562355 | PMID:30575818 | PMID:30639242 | PMID:30651601 | PMID:30655611 | PMID:30712867 | PMID:30840064 | PMID:30860980 | PMID:30884312 | PMID:30997501 |
PMID:31015455 | PMID:31062740 | PMID:31104677 | PMID:31116161 | PMID:31162857 | PMID:31228933 | PMID:31332168 | PMID:31337872 | PMID:31350822 | PMID:31442328 | PMID:31511039 | PMID:31527615 |
PMID:31549767 | PMID:31586073 | PMID:31630873 | PMID:31638232 | PMID:31647501 | PMID:31675434 | PMID:31697451 | PMID:31759987 | PMID:31774543 | PMID:31804006 | PMID:31856410 | PMID:31881025 |
PMID:31899815 | PMID:31980649 | PMID:32027256 | PMID:32087194 | PMID:32089414 | PMID:32171651 | PMID:32227276 | PMID:32296183 | PMID:32393580 | PMID:32562975 | PMID:32587355 | PMID:32620824 |
PMID:32628708 | PMID:32687490 | PMID:32699322 | PMID:32706759 | PMID:32707033 | PMID:32732488 | PMID:32743766 | PMID:32747568 | PMID:32775409 | PMID:32814053 | PMID:32892548 | PMID:32990852 |
PMID:33053566 | PMID:33230298 | PMID:33247684 | PMID:33325154 | PMID:33355187 | PMID:33431353 | PMID:33444485 | PMID:33469841 | PMID:33579760 | PMID:33620658 | PMID:33686722 | PMID:33704722 |
PMID:33710503 | PMID:33744389 | PMID:33773991 | PMID:33784337 | PMID:33956301 | PMID:33961700 | PMID:33961781 | PMID:34002029 | PMID:34006870 | PMID:34024223 | PMID:34110110 | PMID:34117033 |
PMID:34215617 | PMID:34215961 | PMID:34230493 | PMID:34289358 | PMID:34290710 | PMID:34407391 | PMID:34462871 | PMID:34591642 | PMID:34686504 | PMID:34746975 | PMID:34828284 | PMID:34913063 |
PMID:34948093 | PMID:35253629 | PMID:35271311 | PMID:35339759 | PMID:35391614 | PMID:35512704 | PMID:35544941 | PMID:35680020 | PMID:35787784 | PMID:35831314 | PMID:35962610 | PMID:35967450 |
PMID:36047997 | PMID:36168628 | PMID:36215168 | PMID:36244648 | PMID:36258226 | PMID:36372672 | PMID:36424410 | PMID:36591710 | PMID:36990254 | PMID:37013448 | PMID:37083947 | PMID:37277698 |
PMID:37314216 | PMID:37317656 | PMID:37317963 | PMID:37355486 | PMID:37499664 | PMID:37526097 | PMID:37609425 | PMID:37616343 | PMID:37628868 | PMID:37827155 | PMID:37839252 | PMID:37953090 |
PMID:38031763 | PMID:38155379 | PMID:38182928 | PMID:38254245 | PMID:38294692 | PMID:38325046 | PMID:38467248 | PMID:38579072 | PMID:38603567 | PMID:38711167 | PMID:38759471 | PMID:38809881 |
PMID:38875469 | PMID:39112713 | PMID:39177514 | PMID:39273371 | PMID:39436655 | PMID:39455841 |
NRAS (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nras (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nras (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nras (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NRAS (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NRAS (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nras (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NRAS (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NRAS (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nras (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in NRAS
290 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_002524.5(NRAS):c.464C>T (p.Ala155Val) | single nucleotide variant | RASopathy [RCV002527601]|not provided [RCV000521930] | Chr1:114708641 [GRCh38] Chr1:115251262 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) | single nucleotide variant | Epidermal nevus [RCV000032848]|Noonan syndrome 1 [RCV000208568] | Chr1:114716060 [GRCh38] Chr1:115258681 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|other|not provided |
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) | single nucleotide variant | Acute megakaryoblastic leukemia in down syndrome [RCV001293767]|Autoimmune lymphoproliferative syndrome type 4 [RCV000144962]|Juvenile myelomonocytic leukemia [RCV000014915]|Noonan syndrome 6 [RCV000022690]|RASopathy [RCV005089258]|not provided [RCV000157672] | Chr1:114716123 [GRCh38] Chr1:115258744 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) | single nucleotide variant | Noonan syndrome 1 [RCV000208537]|Noonan syndrome 6 [RCV000014916]|Noonan syndrome [RCV000211835]|RASopathy [RCV000463185] | Chr1:114713941 [GRCh38] Chr1:115256562 [GRCh37] Chr1:1p13.2 |
pathogenic|not provided |
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) | single nucleotide variant | Cardiovascular phenotype [RCV004984642]|NRAS-related disorder [RCV003415702]|Noonan syndrome 1 [RCV000208552]|Noonan syndrome 6 [RCV000014917]|RASopathy [RCV001382056]|not provided [RCV000158982] | Chr1:114713911 [GRCh38] Chr1:115256532 [GRCh37] Chr1:1p13.2 |
pathogenic|not provided |
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) | single nucleotide variant | Large congenital melanocytic nevus [RCV002476203]|RASopathy [RCV000545519] | Chr1:114716136 [GRCh38] Chr1:115258757 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) | single nucleotide variant | Acute myeloid leukemia [RCV000438070]|Carcinoma of colon [RCV000014913]|Large congenital melanocytic nevus [RCV000114743]|Linear nevus sebaceous syndrome [RCV005251038]|Noonan syndrome 6 [RCV001781267]|not provided [RCV004767008] | Chr1:114716124 [GRCh38] Chr1:115258745 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|other |
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) | single nucleotide variant | Epidermal nevus [RCV000032847]|Large congenital melanocytic nevus [RCV000114744]|Linear nevus sebaceous syndrome [RCV000148032]|Neurocutaneous melanocytosis [RCV000114745]|Non-small cell lung carcinoma [RCV000037574]|Noonan syndrome 6 [RCV003992155]|Thyroid cancer, nonmedullary, 2 [RCV000014914]|Vascular malformation [RCV005251039]|not provided [RCV000413804] | Chr1:114713908 [GRCh38] Chr1:115256529 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance|other|not provided |
NRAS:c.181C>A (p.Gln61Lys) | single nucleotide variant | MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC [RCV000114746]|NEUROCUTANEOUS MELANOSIS, SOMATIC INCLUDED [RCV000114747] | Chr1:114713909 [GRCh38] Chr1:115256530 [GRCh37] Chr1:1p13.2 |
other |
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) | single nucleotide variant | Autoimmune lymphoproliferative syndrome type 4 [RCV003221788]|Cardiovascular phenotype [RCV004018703]|Epidermal nevus [RCV000032849]|Juvenile myelomonocytic leukemia [RCV000144963]|NRAS-related disorder [RCV003415756]|Noonan syndrome 6 [RCV001781333]|Noonan syndrome and Noonan-related syndrome [RCV001813214]|RASopathy [RCV001852659]|not provided [RCV000158980] | Chr1:114716126 [GRCh38] Chr1:115258747 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|other|not provided |
NM_002524.5(NRAS):c.291-8G>A | single nucleotide variant | RASopathy [RCV000862599]|not provided [RCV001707515]|not specified [RCV000037575] | Chr1:114709736 [GRCh38] Chr1:115252357 [GRCh37] Chr1:1p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) | single nucleotide variant | Noonan syndrome [RCV000037576]|RASopathy [RCV001377735]|not provided [RCV000158986] | Chr1:114716126 [GRCh38] Chr1:115258747 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.360G>A (p.Leu120=) | single nucleotide variant | Cardiovascular phenotype [RCV002453281]|Noonan syndrome 6 [RCV001100796]|Noonan syndrome and Noonan-related syndrome [RCV001813240]|RASopathy [RCV001080827]|not provided [RCV000587570]|not specified [RCV000037577] | Chr1:114709659 [GRCh38] Chr1:115252280 [GRCh37] Chr1:1p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 | copy number gain | See cases [RCV000051827] | Chr1:109756630..118650204 [GRCh38] Chr1:110299252..119192827 [GRCh37] Chr1:110100775..118994350 [NCBI36] Chr1:1p13.3-12 |
pathogenic |
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) | single nucleotide variant | Large congenital melanocytic nevus [RCV000114746]|Neurocutaneous melanocytosis [RCV000144964]|RASopathy [RCV000696329]|Ras Inhibitor response [RCV000626456]|Vascular Tumors Including Pyogenic Granuloma [RCV000662267]|not provided [RCV001092890] | Chr1:114713909 [GRCh38] Chr1:115256530 [GRCh37] Chr1:115058053 [NCBI36] Chr1:1p13.2 |
pathogenic|likely pathogenic|drug response|uncertain significance|other|not provided |
NM_002524.5(NRAS):c.504G>C (p.Met168Ile) | single nucleotide variant | RASopathy [RCV005089604]|not provided [RCV000680367]|not specified [RCV000121741] | Chr1:114708601 [GRCh38] Chr1:115251222 [GRCh37] Chr1:1p13.2 |
uncertain significance|not provided |
NM_002524.5(NRAS):c.112-8A>G | single nucleotide variant | NRAS-related disorder [RCV003905211]|Noonan syndrome 6 [RCV001101050]|Noonan syndrome and Noonan-related syndrome [RCV001813388]|RASopathy [RCV001089307]|not provided [RCV000588495]|not specified [RCV000127228] | Chr1:114713986 [GRCh38] Chr1:115256607 [GRCh37] Chr1:1p13.2 |
benign|likely benign|uncertain significance |
NM_002524.5(NRAS):c.-50A>G | single nucleotide variant | Noonan syndrome 6 [RCV000377346]|not provided [RCV004710538]|not specified [RCV000127229] | Chr1:114716690 [GRCh38] Chr1:115259311 [GRCh37] Chr1:1p13.2 |
benign|likely benign|uncertain significance |
NM_002524.5(NRAS):c.503T>A (p.Met168Lys) | single nucleotide variant | not specified [RCV001293540] | Chr1:114708602 [GRCh38] Chr1:115251223 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1 | copy number loss | See cases [RCV000139157] | Chr1:114499327..114926423 [GRCh38] Chr1:115041949..115469044 [GRCh37] Chr1:114843472..115270567 [NCBI36] Chr1:1p13.2 |
uncertain significance |
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 | copy number gain | See cases [RCV000142953] | Chr1:104325484..119977655 [GRCh38] Chr1:104868106..120471049 [GRCh37] Chr1:104669629..120321801 [NCBI36] Chr1:1p21.1-12 |
pathogenic |
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) | single nucleotide variant | NRAS-related disorder [RCV003945240]|Noonan syndrome 6 [RCV000373742]|Noonan syndrome [RCV001261093]|RASopathy [RCV000654962]|not provided [RCV005229993]|not specified [RCV000155806] | Chr1:114708552 [GRCh38] Chr1:115251173 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) | single nucleotide variant | Juvenile myelomonocytic leukemia [RCV000158978]|Noonan syndrome 6 [RCV003998247]|Noonan syndrome and Noonan-related syndrome [RCV001813397]|RASopathy [RCV001066799]|not provided [RCV000212761] | Chr1:114716127 [GRCh38] Chr1:115258748 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys) | single nucleotide variant | Noonan syndrome 6 [RCV005055078]|RASopathy [RCV001850066]|not provided [RCV001823120]|not specified [RCV000151575] | Chr1:114709651 [GRCh38] Chr1:115252272 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.225C>T (p.Gly75=) | single nucleotide variant | Cardiovascular phenotype [RCV002444638]|NRAS-related disorder [RCV003952766]|Noonan syndrome 6 [RCV000320449]|RASopathy [RCV001086742]|not provided [RCV000157673]|not specified [RCV000154799] | Chr1:114713865 [GRCh38] Chr1:115256486 [GRCh37] Chr1:1p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002524.5(NRAS):c.159G>A (p.Leu53=) | single nucleotide variant | Cardiovascular phenotype [RCV004019821]|NRAS-related disorder [RCV003952724]|RASopathy [RCV000534894]|not provided [RCV001594857]|not specified [RCV000151574] | Chr1:114713931 [GRCh38] Chr1:115256552 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) | single nucleotide variant | Chronic myelogenous leukemia, BCR-ABL1 positive [RCV002291497]|not provided [RCV000158979] | Chr1:114716127 [GRCh38] Chr1:115258748 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) | single nucleotide variant | Increased nuchal translucency [RCV001526619]|Noonan syndrome 6 [RCV001781335]|not provided [RCV000158985] | Chr1:114716127 [GRCh38] Chr1:115258748 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.562G>A (p.Val188Met) | single nucleotide variant | RASopathy [RCV005055637]|not provided [RCV000157674] | Chr1:114708543 [GRCh38] Chr1:115251164 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) | single nucleotide variant | Cardiovascular phenotype [RCV004017274]|Noonan syndrome 6 [RCV002470724]|not provided [RCV000158981] | Chr1:114713915 [GRCh38] Chr1:115256536 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_002524.5(NRAS):c.325G>C (p.Val109Leu) | single nucleotide variant | not provided [RCV000158983] | Chr1:114709694 [GRCh38] Chr1:115252315 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.112-1_113dup | duplication | RASopathy [RCV000158984] | Chr1:114713976..114713977 [GRCh38] Chr1:115256597..115256598 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.334G>T (p.Val112Leu) | single nucleotide variant | RASopathy [RCV003654179]|not provided [RCV000158987] | Chr1:114709685 [GRCh38] Chr1:115252306 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.442A>G (p.Thr148Ala) | single nucleotide variant | not provided [RCV000158988] | Chr1:114709577 [GRCh38] Chr1:115252198 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*344A>G | single nucleotide variant | Noonan syndrome 6 [RCV000259443] | Chr1:114707750 [GRCh38] Chr1:115250371 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) | single nucleotide variant | Noonan syndrome 6 [RCV000709916]|not provided [RCV002468937]|not specified [RCV000194018] | Chr1:114709702 [GRCh38] Chr1:115252323 [GRCh37] Chr1:1p13.2 |
uncertain significance|not provided |
NM_002524.5(NRAS):c.*1643G>C | single nucleotide variant | Noonan syndrome 6 [RCV000285060] | Chr1:114706451 [GRCh38] Chr1:115249072 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) | single nucleotide variant | Cardiovascular phenotype [RCV002356400]|Noonan syndrome 6 [RCV000262996] | Chr1:114709639 [GRCh38] Chr1:115252260 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) | single nucleotide variant | Noonan syndrome 6 [RCV003155143]|not provided [RCV000291285] | Chr1:114713908 [GRCh38] Chr1:115256529 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) | single nucleotide variant | Myelodysplastic syndrome progressed to acute myeloid leukemia [RCV000203450]|Noonan syndrome and Noonan-related syndrome [RCV001813426]|RASopathy [RCV001324275]|not provided [RCV000380895] | Chr1:114716126 [GRCh38] Chr1:115258747 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) | single nucleotide variant | Noonan syndrome 1 [RCV000208553]|RASopathy [RCV004732470]|not provided [RCV000522652] | Chr1:114716090 [GRCh38] Chr1:115258711 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|not provided |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
NM_002524.5(NRAS):c.461A>G (p.Asp154Gly) | single nucleotide variant | RASopathy [RCV000548898]|not provided [RCV004722924] | Chr1:114708644 [GRCh38] Chr1:115251265 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.290+15A>C | single nucleotide variant | RASopathy [RCV002064373]|not specified [RCV000600398] | Chr1:114713785 [GRCh38] Chr1:115256406 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*3366G>T | single nucleotide variant | Noonan syndrome 6 [RCV000278492] | Chr1:114704728 [GRCh38] Chr1:115247349 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.-106G>T | single nucleotide variant | Noonan syndrome 6 [RCV000285468] | Chr1:114716746 [GRCh38] Chr1:115259367 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2327C>T | single nucleotide variant | Noonan syndrome 6 [RCV000281427] | Chr1:114705767 [GRCh38] Chr1:115248388 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*2662G>A | single nucleotide variant | Noonan syndrome 6 [RCV000272399]|not provided [RCV004713502] | Chr1:114705432 [GRCh38] Chr1:115248053 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.*2510_*2515del | deletion | Noonan syndrome [RCV000277907] | Chr1:114705579..114705584 [GRCh38] Chr1:115248200..115248205 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*2464A>G | single nucleotide variant | Noonan syndrome 6 [RCV000373515] | Chr1:114705630 [GRCh38] Chr1:115248251 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*2844T>A | single nucleotide variant | Noonan syndrome 6 [RCV000398306] | Chr1:114705250 [GRCh38] Chr1:115247871 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2965del | deletion | Noonan syndrome [RCV000300681] | Chr1:114705129 [GRCh38] Chr1:115247750 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*2513T>A | single nucleotide variant | Noonan syndrome 6 [RCV000316496]|not provided [RCV003409430] | Chr1:114705581 [GRCh38] Chr1:115248202 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*3219C>G | single nucleotide variant | Noonan syndrome 6 [RCV000335852] | Chr1:114704875 [GRCh38] Chr1:115247496 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*111A>G | single nucleotide variant | Noonan syndrome 6 [RCV000317051]|not provided [RCV003409431] | Chr1:114707983 [GRCh38] Chr1:115250604 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.4(NRAS):c.-208T>A | single nucleotide variant | Noonan syndrome [RCV000288966]|not provided [RCV001582914] | Chr1:114716848 [GRCh38] Chr1:115259469 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*2805T>C | single nucleotide variant | Noonan syndrome 6 [RCV000304039]|not provided [RCV003409429] | Chr1:114705289 [GRCh38] Chr1:115247910 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*3384C>T | single nucleotide variant | Noonan syndrome 6 [RCV000405052] | Chr1:114704710 [GRCh38] Chr1:115247331 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.*2784T>A | single nucleotide variant | Noonan syndrome 6 [RCV000361225] | Chr1:114705310 [GRCh38] Chr1:115247931 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*3404T>C | single nucleotide variant | Noonan syndrome 6 [RCV000292737] | Chr1:114704690 [GRCh38] Chr1:115247311 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2667T>C | single nucleotide variant | Noonan syndrome 6 [RCV000364455]|not provided [RCV004714647] | Chr1:114705427 [GRCh38] Chr1:115248048 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.*3499C>T | single nucleotide variant | Noonan syndrome 6 [RCV000386944] | Chr1:114704595 [GRCh38] Chr1:115247216 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*2546C>T | single nucleotide variant | Noonan syndrome 6 [RCV000388618] | Chr1:114705548 [GRCh38] Chr1:115248169 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*872C>T | single nucleotide variant | Noonan syndrome 6 [RCV000345781]|not provided [RCV004713503] | Chr1:114707222 [GRCh38] Chr1:115249843 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.*583T>G | single nucleotide variant | Noonan syndrome 6 [RCV000367629] | Chr1:114707511 [GRCh38] Chr1:115250132 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*740G>A | single nucleotide variant | Noonan syndrome 6 [RCV000310736] | Chr1:114707354 [GRCh38] Chr1:115249975 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.*346G>A | single nucleotide variant | Noonan syndrome 6 [RCV000370376]|not provided [RCV004713504] | Chr1:114707748 [GRCh38] Chr1:115250369 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.*416A>C | single nucleotide variant | Noonan syndrome 6 [RCV000313412]|not provided [RCV004710701] | Chr1:114707678 [GRCh38] Chr1:115250299 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*1062_*1063del | deletion | Noonan syndrome [RCV000395739] | Chr1:114707031..114707032 [GRCh38] Chr1:115249652..115249653 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*536C>T | single nucleotide variant | Noonan syndrome 6 [RCV000275482] | Chr1:114707558 [GRCh38] Chr1:115250179 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2714G>T | single nucleotide variant | Noonan syndrome 6 [RCV000268936] | Chr1:114705380 [GRCh38] Chr1:115248001 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2630G>A | single nucleotide variant | Noonan syndrome 6 [RCV000329752] | Chr1:114705464 [GRCh38] Chr1:115248085 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.4(NRAS):c.-179G>C | single nucleotide variant | Noonan syndrome [RCV000380979] | Chr1:114716819 [GRCh38] Chr1:115259440 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.4(NRAS):c.-209A>G | single nucleotide variant | Noonan syndrome [RCV000346351] | Chr1:114716849 [GRCh38] Chr1:115259470 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.4(NRAS):c.-242G>C | single nucleotide variant | Noonan syndrome [RCV000403024] | Chr1:114716882 [GRCh38] Chr1:115259503 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*935dup | duplication | Noonan syndrome [RCV000307322] | Chr1:114707158..114707159 [GRCh38] Chr1:115249779..115249780 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2677A>T | single nucleotide variant | Noonan syndrome 6 [RCV000307407] | Chr1:114705417 [GRCh38] Chr1:115248038 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*3392T>C | single nucleotide variant | Noonan syndrome 6 [RCV000352339] | Chr1:114704702 [GRCh38] Chr1:115247323 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2178G>A | single nucleotide variant | Noonan syndrome 6 [RCV000338787] | Chr1:114705916 [GRCh38] Chr1:115248537 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*3062C>T | single nucleotide variant | Noonan syndrome 6 [RCV000393269] | Chr1:114705032 [GRCh38] Chr1:115247653 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.4(NRAS):c.-245C>T | single nucleotide variant | Noonan syndrome [RCV000311439] | Chr1:114716885 [GRCh38] Chr1:115259506 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2860G>A | single nucleotide variant | Noonan syndrome 6 [RCV000357851] | Chr1:114705234 [GRCh38] Chr1:115247855 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1382G>T | single nucleotide variant | Noonan syndrome 6 [RCV000341854] | Chr1:114706712 [GRCh38] Chr1:115249333 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1656C>T | single nucleotide variant | Noonan syndrome 6 [RCV000377148] | Chr1:114706438 [GRCh38] Chr1:115249059 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*774A>G | single nucleotide variant | Noonan syndrome 6 [RCV000395755] | Chr1:114707320 [GRCh38] Chr1:115249941 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.4(NRAS):c.-132C>T | single nucleotide variant | Noonan syndrome [RCV000342811] | Chr1:114716772 [GRCh38] Chr1:115259393 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.183A>T (p.Gln61His) | single nucleotide variant | Noonan syndrome and Noonan-related syndrome [RCV001813470]|not provided [RCV000414646] | Chr1:114713907 [GRCh38] Chr1:115256528 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 | copy number gain | See cases [RCV000449311] | Chr1:114507501..120494232 [GRCh37] Chr1:1p13.2-12 |
pathogenic |
NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) | single nucleotide variant | Melanoma [RCV000420759] | Chr1:114716123 [GRCh38] Chr1:115258744 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) | single nucleotide variant | Melanoma [RCV000427189] | Chr1:114713909 [GRCh38] Chr1:115256530 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_002524.5(NRAS):c.43+20G>A | single nucleotide variant | not provided [RCV000424029] | Chr1:114708134 [GRCh38] Chr1:115250755 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.37G>T (p.Gly13Cys) | single nucleotide variant | Melanoma [RCV000445167] | Chr1:114716124 [GRCh38] Chr1:115258745 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_002524.5(NRAS):c.-16T>C | single nucleotide variant | not provided [RCV000424162] | Chr1:114716176 [GRCh38] Chr1:115258797 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) | indel | Melanoma [RCV000425830] | Chr1:114713907..114713908 [GRCh38] Chr1:115256528..115256529 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg) | indel | Melanoma [RCV000426087] | Chr1:114713908..114713909 [GRCh38] Chr1:115256529..115256530 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu) | indel | Melanoma [RCV000443704] | Chr1:114713907..114713908 [GRCh38] Chr1:115256528..115256529 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_002524.5(NRAS):c.*5A>G | single nucleotide variant | not specified [RCV000427906] | Chr1:114708192 [GRCh38] Chr1:115250813 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.37G>A (p.Gly13Ser) | single nucleotide variant | Neoplasm of stomach [RCV000436341] | Chr1:114716124 [GRCh38] Chr1:115258745 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.52G>A (p.Ala18Thr) | single nucleotide variant | Melanoma [RCV000435339] | Chr1:114716109 [GRCh38] Chr1:115258730 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.315C>T (p.Asp105=) | single nucleotide variant | Cardiovascular phenotype [RCV002323599]|RASopathy [RCV002521569]|not provided [RCV000425023] | Chr1:114709704 [GRCh38] Chr1:115252325 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.181C>T (p.Gln61Ter) | single nucleotide variant | Melanoma [RCV000425052] | Chr1:114713909 [GRCh38] Chr1:115256530 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.-30A>G | single nucleotide variant | not specified [RCV000429327] | Chr1:114716670 [GRCh38] Chr1:115259291 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.450+18G>T | single nucleotide variant | RASopathy [RCV002061449]|not provided [RCV000422469] | Chr1:114709551 [GRCh38] Chr1:115252172 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) | single nucleotide variant | Cardiovascular phenotype [RCV004022195] | Chr1:114716123 [GRCh38] Chr1:115258744 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) | single nucleotide variant | RASopathy [RCV002524687] | Chr1:114713908 [GRCh38] Chr1:115256529 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_002524.5(NRAS):c.183A>C (p.Gln61His) | single nucleotide variant | Acute myeloid leukemia [RCV000436751]|Melanoma [RCV000443672]|Non-small cell lung carcinoma [RCV000426637] | Chr1:114713907 [GRCh38] Chr1:115256528 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.525T>C (p.Asp175=) | single nucleotide variant | not provided [RCV000433515] | Chr1:114708580 [GRCh38] Chr1:115251201 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.87A>G (p.Val29=) | single nucleotide variant | Cardiovascular phenotype [RCV004022369]|RASopathy [RCV002062579]|not provided [RCV000440684] | Chr1:114716074 [GRCh38] Chr1:115258695 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.36T>G (p.Gly12=) | single nucleotide variant | Cardiovascular phenotype [RCV002348169]|NRAS-related disorder [RCV003912648]|Noonan syndrome 6 [RCV001101051]|RASopathy [RCV002062313]|not provided [RCV000427012]|not specified [RCV001778962] | Chr1:114716125 [GRCh38] Chr1:115258746 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.112-3del | deletion | not specified [RCV000484124] | Chr1:114713981 [GRCh38] Chr1:115256602 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.290+7G>A | single nucleotide variant | NRAS-related disorder [RCV003925393]|RASopathy [RCV000460147]|not provided [RCV003409649]|not specified [RCV000601392] | Chr1:114713793 [GRCh38] Chr1:115256414 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.250A>G (p.Ile84Val) | single nucleotide variant | Noonan syndrome 6 [RCV001100797]|RASopathy [RCV001066150]|not provided [RCV000480705] | Chr1:114713840 [GRCh38] Chr1:115256461 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.451-21_451-19del | deletion | RASopathy [RCV002063703]|not provided [RCV000480713]|not specified [RCV001778974] | Chr1:114708673..114708675 [GRCh38] Chr1:115251294..115251296 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_002524.5(NRAS):c.393C>T (p.His131=) | single nucleotide variant | RASopathy [RCV000533977]|not provided [RCV001712528] | Chr1:114709626 [GRCh38] Chr1:115252247 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.432C>T (p.Thr144=) | single nucleotide variant | Cardiovascular phenotype [RCV002331082]|Noonan syndrome and Noonan-related syndrome [RCV001813525]|RASopathy [RCV002064335]|not specified [RCV000603088] | Chr1:114709587 [GRCh38] Chr1:115252208 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.380C>T (p.Thr127Ile) | single nucleotide variant | RASopathy [RCV000560359] | Chr1:114709639 [GRCh38] Chr1:115252260 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.-46T>A | single nucleotide variant | not specified [RCV000610987] | Chr1:114716686 [GRCh38] Chr1:115259307 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.434C>T (p.Ser145Leu) | single nucleotide variant | RASopathy [RCV000654917] | Chr1:114709585 [GRCh38] Chr1:115252206 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 | copy number gain | See cases [RCV000512354] | Chr1:93837992..121343783 [GRCh37] Chr1:1p22.1-11.2 |
pathogenic |
NM_002524.5(NRAS):c.127C>T (p.Gln43Ter) | single nucleotide variant | not provided [RCV000513258] | Chr1:114713963 [GRCh38] Chr1:115256584 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.147A>C (p.Glu49Asp) | single nucleotide variant | not provided [RCV000681060] | Chr1:114713943 [GRCh38] Chr1:115256564 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.178G>A (p.Gly60Arg) | single nucleotide variant | not provided [RCV000681189] | Chr1:114713912 [GRCh38] Chr1:115256533 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.451-334G>A | single nucleotide variant | not provided [RCV000681339] | Chr1:114708988 [GRCh38] Chr1:115251609 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.291-260C>G | single nucleotide variant | not provided [RCV000681249] | Chr1:114709988 [GRCh38] Chr1:115252609 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.112-24dup | duplication | RASopathy [RCV002060861]|not provided [RCV000680633]|not specified [RCV001193081] | Chr1:114713997..114713998 [GRCh38] Chr1:115256618..115256619 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.451-44G>A | single nucleotide variant | not provided [RCV000680672] | Chr1:114708698 [GRCh38] Chr1:115251319 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.31G>A (p.Ala11Thr) | single nucleotide variant | Cardiovascular phenotype [RCV004026162]|RASopathy [RCV001042539]|not provided [RCV000680636] | Chr1:114716130 [GRCh38] Chr1:115258751 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.451-200C>T | single nucleotide variant | not provided [RCV000680726] | Chr1:114708854 [GRCh38] Chr1:115251475 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.565A>G (p.Met189Val) | single nucleotide variant | not provided [RCV000680640] | Chr1:114708540 [GRCh38] Chr1:115251161 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_002524.5(NRAS):c.-17-4A>G | single nucleotide variant | not provided [RCV001586452] | Chr1:114716181 [GRCh38] Chr1:115258802 [GRCh37] Chr1:1p13.2 |
likely benign |
NC_000001.11:g.114716959T>C | single nucleotide variant | not provided [RCV001568102] | Chr1:114716959 [GRCh38] Chr1:115259580 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) | single nucleotide variant | Anemia [RCV001003789]|Noonan syndrome [RCV001261065] | Chr1:114713914 [GRCh38] Chr1:115256535 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.54A>C (p.Ala18=) | single nucleotide variant | not provided [RCV000943948] | Chr1:114716107 [GRCh38] Chr1:115258728 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.45G>C (p.Gly15=) | single nucleotide variant | RASopathy [RCV001405583] | Chr1:114716116 [GRCh38] Chr1:115258737 [GRCh37] Chr1:1p13.2 |
likely benign |
GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 | copy number loss | not provided [RCV001005130] | Chr1:114024461..116189135 [GRCh37] Chr1:1p13.2-13.1 |
likely pathogenic |
NM_002524.5(NRAS):c.65A>G (p.Gln22Arg) | single nucleotide variant | RASopathy [RCV000815786]|not provided [RCV004777892] | Chr1:114716096 [GRCh38] Chr1:115258717 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.320A>C (p.Asp107Ala) | single nucleotide variant | RASopathy [RCV000807015] | Chr1:114709699 [GRCh38] Chr1:115252320 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.561G>A (p.Val187=) | single nucleotide variant | RASopathy [RCV000798715] | Chr1:114708544 [GRCh38] Chr1:115251165 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*2816T>C | single nucleotide variant | Noonan syndrome 6 [RCV001097130] | Chr1:114705278 [GRCh38] Chr1:115247899 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*2811C>A | single nucleotide variant | Noonan syndrome 6 [RCV001097131] | Chr1:114705283 [GRCh38] Chr1:115247904 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.300T>A (p.Ile100=) | single nucleotide variant | RASopathy [RCV001456038] | Chr1:114709719 [GRCh38] Chr1:115252340 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.101C>G (p.Pro34Arg) | single nucleotide variant | not provided [RCV000994077] | Chr1:114716060 [GRCh38] Chr1:115258681 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*3103G>T | single nucleotide variant | Noonan syndrome 6 [RCV001100880] | Chr1:114704991 [GRCh38] Chr1:115247612 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1629C>G | single nucleotide variant | Noonan syndrome 6 [RCV001097227] | Chr1:114706465 [GRCh38] Chr1:115249086 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1466A>T | single nucleotide variant | Noonan syndrome 6 [RCV001097230] | Chr1:114706628 [GRCh38] Chr1:115249249 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.370A>G (p.Thr124Ala) | single nucleotide variant | RASopathy [RCV001866020]|not provided [RCV001569976] | Chr1:114709649 [GRCh38] Chr1:115252270 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NC_000001.10:g.(?_113456513)_(116311162_?)dup | duplication | RASopathy [RCV003107709] | Chr1:113456513..116311162 [GRCh37] Chr1:1p13.2-13.1 |
uncertain significance |
NC_000001.11:g.114716978G>T | single nucleotide variant | not provided [RCV001614124] | Chr1:114716978 [GRCh38] Chr1:115259599 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.291-315A>G | single nucleotide variant | not provided [RCV001557783] | Chr1:114710043 [GRCh38] Chr1:115252664 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.444C>T (p.Thr148=) | single nucleotide variant | not provided [RCV000939169] | Chr1:114709575 [GRCh38] Chr1:115252196 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*2226G>C | single nucleotide variant | Noonan syndrome 6 [RCV001100701] | Chr1:114705868 [GRCh38] Chr1:115248489 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*3341A>T | single nucleotide variant | Noonan syndrome 6 [RCV001100878] | Chr1:114704753 [GRCh38] Chr1:115247374 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe) | single nucleotide variant | Noonan syndrome [RCV001249716] | Chr1:114713855 [GRCh38] Chr1:115256476 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.152G>A (p.Cys51Tyr) | single nucleotide variant | RASopathy [RCV001070491] | Chr1:114713938 [GRCh38] Chr1:115256559 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.425T>C (p.Ile142Thr) | single nucleotide variant | RASopathy [RCV002771045] | Chr1:114709594 [GRCh38] Chr1:115252215 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.304C>T (p.Arg102Ter) | single nucleotide variant | not provided [RCV002467166] | Chr1:114709715 [GRCh38] Chr1:115252336 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.-18+156A>C | single nucleotide variant | not provided [RCV001716053] | Chr1:114716502 [GRCh38] Chr1:115259123 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.450+12C>T | single nucleotide variant | RASopathy [RCV003539398]|not provided [RCV001699996] | Chr1:114709557 [GRCh38] Chr1:115252178 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*3020A>G | single nucleotide variant | Noonan syndrome 6 [RCV001100881] | Chr1:114705074 [GRCh38] Chr1:115247695 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2618A>G | single nucleotide variant | Noonan syndrome 6 [RCV001098880]|not provided [RCV003405303] | Chr1:114705476 [GRCh38] Chr1:115248097 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*1914A>G | single nucleotide variant | Noonan syndrome 6 [RCV001100968] | Chr1:114706180 [GRCh38] Chr1:115248801 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*651C>T | single nucleotide variant | Noonan syndrome 6 [RCV001098984] | Chr1:114707443 [GRCh38] Chr1:115250064 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*3362T>C | single nucleotide variant | Noonan syndrome 6 [RCV001100877] | Chr1:114704732 [GRCh38] Chr1:115247353 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*3306A>G | single nucleotide variant | Noonan syndrome 6 [RCV001100879] | Chr1:114704788 [GRCh38] Chr1:115247409 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.-18+62A>C | single nucleotide variant | not provided [RCV001694662] | Chr1:114716596 [GRCh38] Chr1:115259217 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.112-70C>T | single nucleotide variant | not provided [RCV001612515]|not specified [RCV003399428] | Chr1:114714048 [GRCh38] Chr1:115256669 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.*2767C>T | single nucleotide variant | Noonan syndrome 6 [RCV001097132] | Chr1:114705327 [GRCh38] Chr1:115247948 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1509A>G | single nucleotide variant | Noonan syndrome 6 [RCV001097229] | Chr1:114706585 [GRCh38] Chr1:115249206 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1105C>T | single nucleotide variant | Noonan syndrome 6 [RCV001097231] | Chr1:114706989 [GRCh38] Chr1:115249610 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.203G>C (p.Arg68Thr) | single nucleotide variant | RASopathy [RCV002560284]|not provided [RCV004720787]|not specified [RCV001201215] | Chr1:114713887 [GRCh38] Chr1:115256508 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.85G>A (p.Val29Ile) | single nucleotide variant | RASopathy [RCV005093723]|not provided [RCV001171586] | Chr1:114716076 [GRCh38] Chr1:115258697 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2523A>G | single nucleotide variant | Noonan syndrome 6 [RCV001098882] | Chr1:114705571 [GRCh38] Chr1:115248192 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2589G>A | single nucleotide variant | Noonan syndrome 6 [RCV001098881] | Chr1:114705505 [GRCh38] Chr1:115248126 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*687A>G | single nucleotide variant | Noonan syndrome 6 [RCV001098983] | Chr1:114707407 [GRCh38] Chr1:115250028 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.*2412G>A | single nucleotide variant | Noonan syndrome 6 [RCV001100699] | Chr1:114705682 [GRCh38] Chr1:115248303 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2328G>A | single nucleotide variant | Noonan syndrome 6 [RCV001100700] | Chr1:114705766 [GRCh38] Chr1:115248387 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*340G>A | single nucleotide variant | Noonan syndrome 6 [RCV001100795] | Chr1:114707754 [GRCh38] Chr1:115250375 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1974T>C | single nucleotide variant | Noonan syndrome 6 [RCV001100966] | Chr1:114706120 [GRCh38] Chr1:115248741 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1845T>C | single nucleotide variant | Noonan syndrome 6 [RCV001100970] | Chr1:114706249 [GRCh38] Chr1:115248870 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*3500G>A | single nucleotide variant | Noonan syndrome 6 [RCV001100602] | Chr1:114704594 [GRCh38] Chr1:115247215 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*3430T>A | single nucleotide variant | Noonan syndrome 6 [RCV001100603] | Chr1:114704664 [GRCh38] Chr1:115247285 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*2517A>G | single nucleotide variant | Noonan syndrome 6 [RCV001100698] | Chr1:114705577 [GRCh38] Chr1:115248198 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*2188C>A | single nucleotide variant | Noonan syndrome 6 [RCV001100702] | Chr1:114705906 [GRCh38] Chr1:115248527 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1936C>G | single nucleotide variant | Noonan syndrome 6 [RCV001100967] | Chr1:114706158 [GRCh38] Chr1:115248779 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.*1571A>G | single nucleotide variant | Noonan syndrome 6 [RCV001097228] | Chr1:114706523 [GRCh38] Chr1:115249144 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.112-6C>G | single nucleotide variant | Noonan syndrome 6 [RCV001100798]|RASopathy [RCV002558012]|not provided [RCV001566706] | Chr1:114713984 [GRCh38] Chr1:115256605 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.*1887T>C | single nucleotide variant | Noonan syndrome 6 [RCV001100969] | Chr1:114706207 [GRCh38] Chr1:115248828 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.291-3T>C | single nucleotide variant | RASopathy [RCV001052664] | Chr1:114709731 [GRCh38] Chr1:115252352 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile) | single nucleotide variant | Noonan syndrome [RCV001261091] | Chr1:114709576 [GRCh38] Chr1:115252197 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.112-24C>A | single nucleotide variant | not provided [RCV001662948] | Chr1:114714002 [GRCh38] Chr1:115256623 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys) | single nucleotide variant | Noonan syndrome 6 [RCV004783939]|Noonan syndrome [RCV001261092] | Chr1:114708648 [GRCh38] Chr1:115251269 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser) | single nucleotide variant | Noonan syndrome [RCV001261066] | Chr1:114713886 [GRCh38] Chr1:115256507 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.272C>T (p.Ala91Val) | single nucleotide variant | RASopathy [RCV001300480]|not provided [RCV001664814] | Chr1:114713818 [GRCh38] Chr1:115256439 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.450+7T>C | single nucleotide variant | RASopathy [RCV001422257] | Chr1:114709562 [GRCh38] Chr1:115252183 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.490C>T (p.Arg164Cys) | single nucleotide variant | Neurodevelopmental disorder [RCV001374972]|RASopathy [RCV001865869] | Chr1:114708615 [GRCh38] Chr1:115251236 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.5C>T (p.Thr2Ile) | single nucleotide variant | not specified [RCV001290573] | Chr1:114716156 [GRCh38] Chr1:115258777 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.539_*4+1del | deletion | RASopathy [RCV001308293] | Chr1:114708530..114708566 [GRCh38] Chr1:115251151..115251187 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) | copy number loss | Seizure [RCV001352640] | Chr1:102021465..119737478 [GRCh37] Chr1:1p21.2-12 |
pathogenic |
NM_002524.5(NRAS):c.411C>T (p.Tyr137=) | single nucleotide variant | Cardiovascular phenotype [RCV002322430]|RASopathy [RCV001418271]|not provided [RCV003405653] | Chr1:114709608 [GRCh38] Chr1:115252229 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.531G>A (p.Gly177=) | single nucleotide variant | RASopathy [RCV001410060] | Chr1:114708574 [GRCh38] Chr1:115251195 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.74A>G (p.Gln25Arg) | single nucleotide variant | not provided [RCV001592708] | Chr1:114716087 [GRCh38] Chr1:115258708 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.-18+195C>T | single nucleotide variant | not provided [RCV001687951] | Chr1:114716463 [GRCh38] Chr1:115259084 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) | single nucleotide variant | Colorectal cancer [RCV002246364]|Noonan syndrome 1 [RCV003151312]|Noonan syndrome [RCV005252061]|Noonan syndrome and Noonan-related syndrome [RCV001813594]|RASopathy [RCV001382057]|not provided [RCV002243172] | Chr1:114713917 [GRCh38] Chr1:115256538 [GRCh37] Chr1:1p13.2 |
pathogenic|likely pathogenic |
NM_002524.5(NRAS):c.318G>A (p.Ser106=) | single nucleotide variant | Cardiovascular phenotype [RCV002322428]|RASopathy [RCV001417885] | Chr1:114709701 [GRCh38] Chr1:115252322 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.69A>G (p.Leu23=) | single nucleotide variant | Cardiovascular phenotype [RCV003160733]|Noonan syndrome and Noonan-related syndrome [RCV001813596]|RASopathy [RCV001432727]|not provided [RCV001550029] | Chr1:114716092 [GRCh38] Chr1:115258713 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.268T>C (p.Phe90Leu) | single nucleotide variant | Focal-onset seizure [RCV001775214]|not provided [RCV003154193] | Chr1:114713822 [GRCh38] Chr1:115256443 [GRCh37] Chr1:1p13.2 |
likely pathogenic|uncertain significance |
NM_002524.5(NRAS):c.64C>T (p.Gln22Ter) | single nucleotide variant | not provided [RCV001763293] | Chr1:114716097 [GRCh38] Chr1:115258718 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.290+15A>G | single nucleotide variant | RASopathy [RCV003539400]|not specified [RCV001732822] | Chr1:114713785 [GRCh38] Chr1:115256406 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.542G>T (p.Cys181Phe) | single nucleotide variant | not provided [RCV001763216] | Chr1:114708563 [GRCh38] Chr1:115251184 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.449A>G (p.Gln150Arg) | single nucleotide variant | Noonan syndrome 6 [RCV001775405] | Chr1:114709570 [GRCh38] Chr1:115252191 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.394G>C (p.Glu132Gln) | single nucleotide variant | not provided [RCV001774266] | Chr1:114709625 [GRCh38] Chr1:115252246 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.554C>T (p.Pro185Leu) | single nucleotide variant | not provided [RCV001769109] | Chr1:114708551 [GRCh38] Chr1:115251172 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.274G>A (p.Asp92Asn) | single nucleotide variant | not provided [RCV001814824] | Chr1:114713816 [GRCh38] Chr1:115256437 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.42T>C (p.Val14=) | single nucleotide variant | Cardiovascular phenotype [RCV002329765]|Noonan syndrome and Noonan-related syndrome [RCV001813680] | Chr1:114716119 [GRCh38] Chr1:115258740 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.179G>T (p.Gly60Val) | single nucleotide variant | Noonan syndrome 6 [RCV003992561]|Noonan syndrome and Noonan-related syndrome [RCV001813662] | Chr1:114713911 [GRCh38] Chr1:115256532 [GRCh37] Chr1:1p13.2 |
likely pathogenic|uncertain significance |
NM_002524.5(NRAS):c.108A>G (p.Ile36Met) | single nucleotide variant | Noonan syndrome 6 [RCV001822085] | Chr1:114716053 [GRCh38] Chr1:115258674 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.478G>A (p.Val160Ile) | single nucleotide variant | RASopathy [RCV001863674]|not provided [RCV002243471] | Chr1:114708627 [GRCh38] Chr1:115251248 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.22G>A (p.Val8Met) | single nucleotide variant | RASopathy [RCV001891891] | Chr1:114716139 [GRCh38] Chr1:115258760 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.331A>G (p.Met111Val) | single nucleotide variant | RASopathy [RCV001910618] | Chr1:114709688 [GRCh38] Chr1:115252309 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.299T>C (p.Ile100Thr) | single nucleotide variant | RASopathy [RCV002004631] | Chr1:114709720 [GRCh38] Chr1:115252341 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.140A>G (p.Asp47Gly) | single nucleotide variant | RASopathy [RCV001892312] | Chr1:114713950 [GRCh38] Chr1:115256571 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) | copy number gain | not specified [RCV002053602] | Chr1:111647582..121343783 [GRCh37] Chr1:1p13.3-11.2 |
pathogenic |
NM_002524.5(NRAS):c.260G>A (p.Ser87Asn) | single nucleotide variant | RASopathy [RCV001986088]|not provided [RCV003228044] | Chr1:114713830 [GRCh38] Chr1:115256451 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.297G>T (p.Gln99His) | single nucleotide variant | RASopathy [RCV001982738] | Chr1:114709722 [GRCh38] Chr1:115252343 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.562G>T (p.Val188Leu) | single nucleotide variant | RASopathy [RCV002039240] | Chr1:114708543 [GRCh38] Chr1:115251164 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.300T>G (p.Ile100Met) | single nucleotide variant | RASopathy [RCV001959481] | Chr1:114709719 [GRCh38] Chr1:115252340 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.499C>T (p.Arg167Ter) | single nucleotide variant | RASopathy [RCV001907357] | Chr1:114708606 [GRCh38] Chr1:115251227 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.273G>A (p.Ala91=) | single nucleotide variant | RASopathy [RCV002111089]|not specified [RCV003403684] | Chr1:114713817 [GRCh38] Chr1:115256438 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.465T>G (p.Ala155=) | single nucleotide variant | RASopathy [RCV002091059] | Chr1:114708640 [GRCh38] Chr1:115251261 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.111+10A>G | single nucleotide variant | RASopathy [RCV002147963] | Chr1:114716040 [GRCh38] Chr1:115258661 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-11T>C | single nucleotide variant | RASopathy [RCV002111441] | Chr1:114708665 [GRCh38] Chr1:115251286 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.112-14C>T | single nucleotide variant | RASopathy [RCV002172265] | Chr1:114713992 [GRCh38] Chr1:115256613 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-14T>G | single nucleotide variant | RASopathy [RCV002079762] | Chr1:114708668 [GRCh38] Chr1:115251289 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-12T>C | single nucleotide variant | RASopathy [RCV002177693] | Chr1:114708666 [GRCh38] Chr1:115251287 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.111+18C>G | single nucleotide variant | RASopathy [RCV002202133] | Chr1:114716032 [GRCh38] Chr1:115258653 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-17A>G | single nucleotide variant | RASopathy [RCV002203489] | Chr1:114708671 [GRCh38] Chr1:115251292 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-10C>T | single nucleotide variant | NRAS-related disorder [RCV003895873]|RASopathy [RCV002082202] | Chr1:114708664 [GRCh38] Chr1:115251285 [GRCh37] Chr1:1p13.2 |
likely benign |
NC_000001.10:g.(?_112318699)_(115576848_?)del | deletion | Hereditary spastic paraplegia 47 [RCV003109541] | Chr1:112318699..115576848 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_002524.5(NRAS):c.371C>T (p.Thr124Ile) | single nucleotide variant | not provided [RCV003236138] | Chr1:114709648 [GRCh38] Chr1:115252269 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.412G>A (p.Gly138Arg) | single nucleotide variant | RASopathy [RCV003097729]|See cases [RCV002287734] | Chr1:114709607 [GRCh38] Chr1:115252228 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.430A>G (p.Thr144Ala) | single nucleotide variant | RASopathy [RCV002297129] | Chr1:114709589 [GRCh38] Chr1:115252210 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1 | copy number loss | not provided [RCV002473608] | Chr1:114833697..115377089 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.107T>C (p.Ile36Thr) | single nucleotide variant | Cardiovascular phenotype [RCV002417527]|RASopathy [RCV003101066] | Chr1:114716054 [GRCh38] Chr1:115258675 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.166C>T (p.Leu56=) | single nucleotide variant | Cardiovascular phenotype [RCV002395118]|RASopathy [RCV005097670] | Chr1:114713924 [GRCh38] Chr1:115256545 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.21G>A (p.Val7=) | single nucleotide variant | Cardiovascular phenotype [RCV002425712] | Chr1:114716140 [GRCh38] Chr1:115258761 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.222A>G (p.Thr74=) | single nucleotide variant | Cardiovascular phenotype [RCV002428208]|NRAS-related disorder [RCV003896188]|RASopathy [RCV003098737] | Chr1:114713868 [GRCh38] Chr1:115256489 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_002524.5(NRAS):c.384A>G (p.Lys128=) | single nucleotide variant | Cardiovascular phenotype [RCV002355467]|not specified [RCV005419438] | Chr1:114709635 [GRCh38] Chr1:115252256 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.180A>G (p.Gly60=) | single nucleotide variant | Prostate cancer, hereditary, 1 [RCV002306249] | Chr1:114713910 [GRCh38] Chr1:115256531 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.252C>T (p.Ile84=) | single nucleotide variant | Cardiovascular phenotype [RCV002433133] | Chr1:114713838 [GRCh38] Chr1:115256459 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.454G>T (p.Val152Phe) | single nucleotide variant | RASopathy [RCV002301834] | Chr1:114708651 [GRCh38] Chr1:115251272 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.164T>C (p.Ile55Thr) | single nucleotide variant | Prostate cancer, hereditary, 1 [RCV002306250] | Chr1:114713926 [GRCh38] Chr1:115256547 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.228A>G (p.Glu76=) | single nucleotide variant | Cardiovascular phenotype [RCV002446210]|RASopathy [RCV003098777] | Chr1:114713862 [GRCh38] Chr1:115256483 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.564G>C (p.Val188=) | single nucleotide variant | Cardiovascular phenotype [RCV002345186]|RASopathy [RCV003096826] | Chr1:114708541 [GRCh38] Chr1:115251162 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.325G>A (p.Val109Ile) | single nucleotide variant | RASopathy [RCV003074614] | Chr1:114709694 [GRCh38] Chr1:115252315 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.84T>C (p.Phe28=) | single nucleotide variant | RASopathy [RCV002903165] | Chr1:114716077 [GRCh38] Chr1:115258698 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.519C>T (p.Ser173=) | single nucleotide variant | RASopathy [RCV002785818] | Chr1:114708586 [GRCh38] Chr1:115251207 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.4A>G (p.Thr2Ala) | single nucleotide variant | RASopathy [RCV003038929] | Chr1:114716157 [GRCh38] Chr1:115258778 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.291-14A>T | single nucleotide variant | RASopathy [RCV003020437] | Chr1:114709742 [GRCh38] Chr1:115252363 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.305G>A (p.Arg102Gln) | single nucleotide variant | RASopathy [RCV002619874]|not provided [RCV003128882] | Chr1:114709714 [GRCh38] Chr1:115252335 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.441G>T (p.Lys147Asn) | single nucleotide variant | RASopathy [RCV002797365] | Chr1:114709578 [GRCh38] Chr1:115252199 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.450G>C (p.Gln150His) | single nucleotide variant | RASopathy [RCV002976028] | Chr1:114709569 [GRCh38] Chr1:115252190 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.330T>C (p.Pro110=) | single nucleotide variant | Cardiovascular phenotype [RCV004983293]|RASopathy [RCV003053026] | Chr1:114709689 [GRCh38] Chr1:115252310 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.41T>G (p.Val14Gly) | single nucleotide variant | RASopathy [RCV002619475] | Chr1:114716120 [GRCh38] Chr1:115258741 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.259A>T (p.Ser87Cys) | single nucleotide variant | NRAS-related disorder [RCV004731303]|RASopathy [RCV002933042]|not provided [RCV003317628] | Chr1:114713831 [GRCh38] Chr1:115256452 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.112-14del | deletion | RASopathy [RCV002643563] | Chr1:114713992 [GRCh38] Chr1:115256613 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.290+4C>T | single nucleotide variant | RASopathy [RCV002933675] | Chr1:114713796 [GRCh38] Chr1:115256417 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.66G>A (p.Gln22=) | single nucleotide variant | RASopathy [RCV002857572] | Chr1:114716095 [GRCh38] Chr1:115258716 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.544A>T (p.Met182Leu) | single nucleotide variant | RASopathy [RCV003048040] | Chr1:114708561 [GRCh38] Chr1:115251182 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.524ATG[3] (p.Asp176_Gly177insAsp) | microsatellite | RASopathy [RCV002627598] | Chr1:114708575..114708576 [GRCh38] Chr1:115251196..115251197 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.410A>G (p.Tyr137Cys) | single nucleotide variant | Cardiovascular phenotype [RCV004138465] | Chr1:114709609 [GRCh38] Chr1:115252230 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.18GGT[2] (p.Val9del) | microsatellite | RASopathy [RCV002602524] | Chr1:114716135..114716137 [GRCh38] Chr1:115258756..115258758 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.83T>G (p.Phe28Cys) | single nucleotide variant | Noonan syndrome 6 [RCV004821373] | Chr1:114716078 [GRCh38] Chr1:115258699 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.111+14G>T | single nucleotide variant | RASopathy [RCV003069015] | Chr1:114716036 [GRCh38] Chr1:115258657 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-19dup | duplication | RASopathy [RCV002654558] | Chr1:114708672..114708673 [GRCh38] Chr1:115251293..115251294 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.291-11C>A | single nucleotide variant | RASopathy [RCV003069555] | Chr1:114709739 [GRCh38] Chr1:115252360 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.450+6G>A | single nucleotide variant | RASopathy [RCV002589249] | Chr1:114709563 [GRCh38] Chr1:115252184 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.450+6G>T | single nucleotide variant | RASopathy [RCV002611852] | Chr1:114709563 [GRCh38] Chr1:115252184 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer) | duplication | Pyogenic granuloma [RCV003458960] | Chr1:114713893..114713894 [GRCh38] Chr1:115256514..115256515 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.4(NRAS):c.-183G>A | single nucleotide variant | not provided [RCV003406686] | Chr1:114716823 [GRCh38] Chr1:115259444 [GRCh37] Chr1:1p13.2 |
likely benign |
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 | copy number loss | not provided [RCV003483294] | Chr1:110066946..116672408 [GRCh37] Chr1:1p13.3-13.1 |
pathogenic |
NM_002524.5(NRAS):c.*2221dup | duplication | not provided [RCV003406684] | Chr1:114705872..114705873 [GRCh38] Chr1:115248493..115248494 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.*3385G>A | single nucleotide variant | not provided [RCV003406683] | Chr1:114704709 [GRCh38] Chr1:115247330 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.264G>C (p.Lys88Asn) | single nucleotide variant | not provided [RCV003406685] | Chr1:114713826 [GRCh38] Chr1:115256447 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.283C>T (p.Leu95Phe) | single nucleotide variant | NRAS-related disorder [RCV003419062]|RASopathy [RCV003655426] | Chr1:114713807 [GRCh38] Chr1:115256428 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.424A>G (p.Ile142Val) | single nucleotide variant | RASopathy [RCV003824829] | Chr1:114709595 [GRCh38] Chr1:115252216 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.186A>G (p.Glu62=) | single nucleotide variant | RASopathy [RCV003654743] | Chr1:114713904 [GRCh38] Chr1:115256525 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.356A>G (p.Asp119Gly) | single nucleotide variant | RASopathy [RCV003654846] | Chr1:114709663 [GRCh38] Chr1:115252284 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.290+11C>G | single nucleotide variant | RASopathy [RCV003655830] | Chr1:114713789 [GRCh38] Chr1:115256410 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.291-9C>T | single nucleotide variant | RASopathy [RCV003839093] | Chr1:114709737 [GRCh38] Chr1:115252358 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.436G>A (p.Ala146Thr) | single nucleotide variant | RASopathy [RCV003654717] | Chr1:114709583 [GRCh38] Chr1:115252204 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.394G>A (p.Glu132Lys) | single nucleotide variant | RASopathy [RCV003654911] | Chr1:114709625 [GRCh38] Chr1:115252246 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.555A>G (p.Pro185=) | single nucleotide variant | RASopathy [RCV003654695] | Chr1:114708550 [GRCh38] Chr1:115251171 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.264G>A (p.Lys88=) | single nucleotide variant | RASopathy [RCV003654742] | Chr1:114713826 [GRCh38] Chr1:115256447 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-11dup | duplication | RASopathy [RCV003654901] | Chr1:114708664..114708665 [GRCh38] Chr1:115251285..115251286 [GRCh37] Chr1:1p13.2 |
benign |
NM_002524.5(NRAS):c.112-7C>T | single nucleotide variant | RASopathy [RCV003654726]|not provided [RCV004810533] | Chr1:114713985 [GRCh38] Chr1:115256606 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_002524.5(NRAS):c.225C>G (p.Gly75=) | single nucleotide variant | RASopathy [RCV003654923] | Chr1:114713865 [GRCh38] Chr1:115256486 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.421T>C (p.Phe141Leu) | single nucleotide variant | RASopathy [RCV003540380] | Chr1:114709598 [GRCh38] Chr1:115252219 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.490C>A (p.Arg164Ser) | single nucleotide variant | RASopathy [RCV003539698]|not provided [RCV004780577] | Chr1:114708615 [GRCh38] Chr1:115251236 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.450+3A>G | single nucleotide variant | RASopathy [RCV003540189] | Chr1:114709566 [GRCh38] Chr1:115252187 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.558T>C (p.Cys186=) | single nucleotide variant | RASopathy [RCV003540398] | Chr1:114708547 [GRCh38] Chr1:115251168 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.21G>T (p.Val7=) | single nucleotide variant | RASopathy [RCV003864515] | Chr1:114716140 [GRCh38] Chr1:115258761 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.451-17A>C | single nucleotide variant | RASopathy [RCV003540183] | Chr1:114708671 [GRCh38] Chr1:115251292 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.112-18del | deletion | RASopathy [RCV003540099] | Chr1:114713996 [GRCh38] Chr1:115256617 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.526G>T (p.Asp176Tyr) | single nucleotide variant | RASopathy [RCV003540218] | Chr1:114708579 [GRCh38] Chr1:115251200 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.404A>G (p.Lys135Arg) | single nucleotide variant | RASopathy [RCV003540268] | Chr1:114709615 [GRCh38] Chr1:115252236 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.166C>G (p.Leu56Val) | single nucleotide variant | RASopathy [RCV003540240] | Chr1:114713924 [GRCh38] Chr1:115256545 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.34_35delinsTT (p.Gly12Phe) | indel | NRAS-related disorder [RCV003896707] | Chr1:114716126..114716127 [GRCh38] Chr1:115258747..115258748 [GRCh37] Chr1:1p13.2 |
likely pathogenic |
NM_002524.5(NRAS):c.272C>G (p.Ala91Gly) | single nucleotide variant | Cardiovascular phenotype [RCV004516041] | Chr1:114713818 [GRCh38] Chr1:115256439 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.385C>G (p.Gln129Glu) | single nucleotide variant | Cardiovascular phenotype [RCV004493430] | Chr1:114709634 [GRCh38] Chr1:115252255 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.203G>T (p.Arg68Ile) | single nucleotide variant | Noonan syndrome 6 [RCV004698372] | Chr1:114713887 [GRCh38] Chr1:115256508 [GRCh37] Chr1:1p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
NM_002524.5(NRAS):c.491G>T (p.Arg164Leu) | single nucleotide variant | Cardiovascular phenotype [RCV004638680] | Chr1:114708614 [GRCh38] Chr1:115251235 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NC_000001.10:g.(?_114437687)_(115576848_?)del | deletion | RASopathy [RCV004579033] | Chr1:114437687..115576848 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NC_000001.10:g.(?_115215735)_(115258781_?)dup | duplication | RASopathy [RCV004579034] | Chr1:115215735..115258781 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.119A>G (p.Tyr40Cys) | single nucleotide variant | not provided [RCV004766376] | Chr1:114713971 [GRCh38] Chr1:115256592 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.423C>G (p.Phe141Leu) | single nucleotide variant | NRAS-related disorder [RCV004731459] | Chr1:114709596 [GRCh38] Chr1:115252217 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.542G>A (p.Cys181Tyr) | single nucleotide variant | not provided [RCV004771030] | Chr1:114708563 [GRCh38] Chr1:115251184 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.254A>G (p.Asn85Ser) | single nucleotide variant | not provided [RCV004775855] | Chr1:114713836 [GRCh38] Chr1:115256457 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.411C>G (p.Tyr137Ter) | single nucleotide variant | NRAS-related disorder [RCV004730384] | Chr1:114709608 [GRCh38] Chr1:115252229 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.51C>T (p.Ser17=) | single nucleotide variant | Cardiovascular phenotype [RCV004989069] | Chr1:114716110 [GRCh38] Chr1:115258731 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.463G>A (p.Ala155Thr) | single nucleotide variant | RASopathy [RCV005172845] | Chr1:114708642 [GRCh38] Chr1:115251263 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.504G>A (p.Met168Ile) | single nucleotide variant | RASopathy [RCV005064087] | Chr1:114708601 [GRCh38] Chr1:115251222 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.468T>C (p.Phe156=) | single nucleotide variant | RASopathy [RCV005063767] | Chr1:114708637 [GRCh38] Chr1:115251258 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.88G>A (p.Asp30Asn) | single nucleotide variant | not specified [RCV005088292] | Chr1:114716073 [GRCh38] Chr1:115258694 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.112-8A>C | single nucleotide variant | RASopathy [RCV005199588] | Chr1:114713986 [GRCh38] Chr1:115256607 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.286T>C (p.Tyr96His) | single nucleotide variant | RASopathy [RCV005113652] | Chr1:114713804 [GRCh38] Chr1:115256425 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.112-19T>C | single nucleotide variant | RASopathy [RCV005192990] | Chr1:114713997 [GRCh38] Chr1:115256618 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.364A>G (p.Thr122Ala) | single nucleotide variant | RASopathy [RCV005153425] | Chr1:114709655 [GRCh38] Chr1:115252276 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.454G>A (p.Val152Ile) | single nucleotide variant | RASopathy [RCV005144431] | Chr1:114708651 [GRCh38] Chr1:115251272 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.503T>C (p.Met168Thr) | single nucleotide variant | not provided [RCV005367911] | Chr1:114708602 [GRCh38] Chr1:115251223 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.112-10A>C | single nucleotide variant | RASopathy [RCV005199589] | Chr1:114713988 [GRCh38] Chr1:115256609 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.528T>C (p.Asp176=) | single nucleotide variant | RASopathy [RCV005131779] | Chr1:114708577 [GRCh38] Chr1:115251198 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.511C>T (p.Leu171Phe) | single nucleotide variant | RASopathy [RCV005152653] | Chr1:114708594 [GRCh38] Chr1:115251215 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.441G>A (p.Lys147=) | single nucleotide variant | RASopathy [RCV005203308] | Chr1:114709578 [GRCh38] Chr1:115252199 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.290+12A>T | single nucleotide variant | RASopathy [RCV005072424] | Chr1:114713788 [GRCh38] Chr1:115256409 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_002524.5(NRAS):c.546G>A (p.Met182Ile) | single nucleotide variant | RASopathy [RCV005111355] | Chr1:114708559 [GRCh38] Chr1:115251180 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.145G>C (p.Glu49Gln) | single nucleotide variant | RASopathy [RCV005131186] | Chr1:114713945 [GRCh38] Chr1:115256566 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.554C>A (p.Pro185Gln) | single nucleotide variant | Cardiovascular phenotype [RCV005379432] | Chr1:114708551 [GRCh38] Chr1:115251172 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_002524.5(NRAS):c.157T>C (p.Leu53=) | single nucleotide variant | Cardiovascular phenotype [RCV003172591]|RASopathy [RCV003779556] | Chr1:114713933 [GRCh38] Chr1:115256554 [GRCh37] Chr1:1p13.2 |
likely benign |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH17093 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
GDB:177368 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
GDB:177539 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
GDB:178391 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
G20630 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
PMC28413P1 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
WI-17660 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
WI-21546 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S3316 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH64700 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-32741 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH64875 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_007572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_002524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF493919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AH001530 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH002961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL096773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW021410 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY428630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY941100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY941101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC005219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC013214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT019734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT019735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA007844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU332857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HD032933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JC006861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094410 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC094418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M25898 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK570077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ068324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ230616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PQ666872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PQ666873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PQ666874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PQ666875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S68580 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X00642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X00643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X00644 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X00645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X02751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X05564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X05565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X07440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X53291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X53292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X61282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000369535 ⟹ ENSP00000358548 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_002524 ⟹ NP_002515 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_002515 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA36548 | (Get FASTA) | NCBI Sequence Viewer |
AAA36556 | (Get FASTA) | NCBI Sequence Viewer | |
AAA60255 | (Get FASTA) | NCBI Sequence Viewer | |
AAB29639 | (Get FASTA) | NCBI Sequence Viewer | |
AAH05219 | (Get FASTA) | NCBI Sequence Viewer | |
AAM12633 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ94397 | (Get FASTA) | NCBI Sequence Viewer | |
AAV38539 | (Get FASTA) | NCBI Sequence Viewer | |
AAV38540 | (Get FASTA) | NCBI Sequence Viewer | |
ABY87546 | (Get FASTA) | NCBI Sequence Viewer | |
CAA25269 | (Get FASTA) | NCBI Sequence Viewer | |
CAA25270 | (Get FASTA) | NCBI Sequence Viewer | |
CAA25271 | (Get FASTA) | NCBI Sequence Viewer | |
CAA25272 | (Get FASTA) | NCBI Sequence Viewer | |
CAA26529 | (Get FASTA) | NCBI Sequence Viewer | |
CAA29078 | (Get FASTA) | NCBI Sequence Viewer | |
CAA29079 | (Get FASTA) | NCBI Sequence Viewer | |
CAA30320 | (Get FASTA) | NCBI Sequence Viewer | |
CAA37384 | (Get FASTA) | NCBI Sequence Viewer | |
CBV35642 | (Get FASTA) | NCBI Sequence Viewer | |
CDL93481 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56608 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56609 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56610 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56611 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000358548 | ||
ENSP00000358548.4 | |||
GenBank Protein | P01111 | (Get FASTA) | NCBI Sequence Viewer |
QDA95518 | (Get FASTA) | NCBI Sequence Viewer | |
QDA95519 | (Get FASTA) | NCBI Sequence Viewer | |
QDA95520 | (Get FASTA) | NCBI Sequence Viewer | |
UBF41790 | (Get FASTA) | NCBI Sequence Viewer | |
UJY53500 | (Get FASTA) | NCBI Sequence Viewer | |
UJY53501 | (Get FASTA) | NCBI Sequence Viewer | |
UJY53502 | (Get FASTA) | NCBI Sequence Viewer | |
UJY53503 | (Get FASTA) | NCBI Sequence Viewer | |
UJY53504 | (Get FASTA) | NCBI Sequence Viewer | |
UJY53505 | (Get FASTA) | NCBI Sequence Viewer | |
UJY53506 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002515 ⟸ NM_002524 |
- UniProtKB: | Q15104 (UniProtKB/Swiss-Prot), Q14971 (UniProtKB/Swiss-Prot), Q15282 (UniProtKB/Swiss-Prot), P01111 (UniProtKB/Swiss-Prot), Q5U091 (UniProtKB/TrEMBL), A0A024R0K0 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000358548 ⟸ ENST00000369535 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P01111-F1-model_v2 | AlphaFold | P01111 | 1-189 | view protein structure |
RGD ID: | 6856714 | ||||||||
Promoter ID: | EPDNEW_H1522 | ||||||||
Type: | initiation region | ||||||||
Name: | NRAS_1 | ||||||||
Description: | NRAS proto-oncogene, GTPase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6786158 | ||||||||
Promoter ID: | HG_KWN:4244 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000406761, NM_002524 | ||||||||
Position: |
|
RGD ID: | 6850270 | ||||||||
Promoter ID: | EP30003 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | HS_NRAS | ||||||||
Description: | Cellular-Neuroblastoma ras-like, NRAS gene. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Notes: | homology_group=Homology group 162; Mammalian N-ras gene | ||||||||
Tissues & Cell Lines: | ubiquitous | ||||||||
Experiment Methods: | Nuclease protection; Primer extension | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:7989 | AgrOrtholog |
COSMIC | NRAS | COSMIC |
Ensembl Genes | ENSG00000213281 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000369535 | ENTREZGENE |
ENST00000369535.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000213281 | GTEx |
HGNC ID | HGNC:7989 | ENTREZGENE |
Human Proteome Map | NRAS | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot | |
Small_GTPase | UniProtKB/Swiss-Prot | |
Small_GTPase_Ras-type | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:4893 | UniProtKB/Swiss-Prot |
NCBI Gene | 4893 | ENTREZGENE |
OMIM | 164790 | OMIM |
PANTHER | PTHR24070 | UniProtKB/Swiss-Prot |
Pfam | Ras | UniProtKB/Swiss-Prot |
PharmGKB | NRAS | RGD, PharmGKB |
PRINTS | RASTRNSFRMNG | UniProtKB/Swiss-Prot |
PROSITE | RAS | UniProtKB/Swiss-Prot |
SMART | RAB | UniProtKB/Swiss-Prot |
RAS | UniProtKB/Swiss-Prot | |
RHO | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot |
UniProt | A0A024R0K0 | ENTREZGENE |
P01111 | ENTREZGENE | |
Q14971 | ENTREZGENE | |
Q15104 | ENTREZGENE | |
Q15282 | ENTREZGENE | |
Q5U091 | ENTREZGENE, UniProtKB/TrEMBL | |
RASN_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q14971 | UniProtKB/Swiss-Prot |
Q15104 | UniProtKB/Swiss-Prot | |
Q15282 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2017-03-07 | NRAS | NRAS proto-oncogene, GTPase | neuroblastoma RAS viral oncogene homolog | Symbol and/or name change | 5135510 | APPROVED | |
2016-04-12 | NRAS | neuroblastoma RAS viral oncogene homolog | neuroblastoma RAS viral (v-ras) oncogene homolog | Symbol and/or name change | 5135510 | APPROVED |