Entrez Gene ID	4763
Official Gene Symbol	NF1 (GeneCards)
Full name	neurofibromin 1
Location	17q11.2
Other ids	Vega : OTTHUMG00000132871 MIM : 613113 HGNC : HGNC:7765 Ensembl : ENSG00000196712
Other names	WSS, NFNS, VRNF
Summary	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

Variants

Found 53 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
476	4763	NF1	17	29661945	29661945	Neurofibromatosis type1	DHPLC
1461	4763	NF1	17	29528451	29528451	Aplastic Anaemia	DHPLC HiSeq 2500
1462	4763	NF1	17	29548880	29548880	Aplastic Anaemia	DHPLC HiSeq 2500
1463	4763	NF1	17	29676268	29676268	Aplastic Anaemia	DHPLC HiSeq 2500
20081	4763	NF1	17	29653767	29653767	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten
31051	4763	NF1	17	29685542	29685542	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31052	4763	NF1	17	29533315	29533315	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31053	4763	NF1	17	29556393	29556393	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31054	4763	NF1	17	29556393	29556393	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31055	4763	NF1	17	29663873	29663873	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31056	4763	NF1	17	29683561	29683561	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31057	4763	NF1	17	29663873	29663873	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31058	4763	NF1	17	29556077	29556077	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31059	4763	NF1	17	29654751	29654751	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31060	4763	NF1	17	29560068	29560068	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
31061	4763	NF1	17	29664560	29664560	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32423	4763	NF1	17	29546078	29546079	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32424	4763	NF1	17	29684113	29684113	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32425	4763	NF1	17	29546076	29546076	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32426	4763	NF1	17	29685576	29685576	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32427	4763	NF1	17	29684382	29684382	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32428	4763	NF1	17	29508477	29508477	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32429	4763	NF1	17	29528084	29528084	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32430	4763	NF1	17	29663437	29663437	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32431	4763	NF1	17	29508779	29508779	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32432	4763	NF1	17	29653080	29653080	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32433	4763	NF1	17	29486084	29486084	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32434	4763	NF1	17	29677314	29677314	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32435	4763	NF1	17	29533305	29533305	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32436	4763	NF1	17	29548886	29548886	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32437	4763	NF1	17	29585493	29585493	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32438	4763	NF1	17	29559838	29559838	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32439	4763	NF1	17	29654737	29654737	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
32440	4763	NF1	17	29665066	29665066	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33660	4763	NF1	17	29557296	29557296	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33661	4763	NF1	17	29559809	29559809	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33662	4763	NF1	17	29562719	29562719	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33663	4763	NF1	17	29657503	29657503	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33664	4763	NF1	17	29554292	29554292	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33665	4763	NF1	17	29657384	29657384	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33666	4763	NF1	17	29483049	29483049	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33667	4763	NF1	17	29528504	29528504	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33668	4763	NF1	17	29585494	29585494	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
33669	4763	NF1	17	29509656	29509656	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34146	4763	NF1	17	29550502	29550502	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34147	4763	NF1	17	29550502	29550502	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34148	4763	NF1	17	29665066	29665066	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34149	4763	NF1	17	29560133	29560133	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34150	4763	NF1	17	29654819	29654819	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34151	4763	NF1	17	29560134	29560134	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34152	4763	NF1	17	29654788	29654788	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34153	4763	NF1	17	29508755	29508755	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel
34154	4763	NF1	17	29664530	29664531	Asymptomatic	DHPLC HiSeq 2500 HiSeq X Ten NGS gene panel

NF1 (Entrez ID: 4763)

Variants