Full data view for gene FBXW7

Information The variants shown are described using the NM_001349798.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_152720434)_(153661857_?)del g.(?_151799282)_(152740705_?)del - arr[GRCh37] 4q31.3(152720434_153661857)x 1 dn FBXW7_000030 - PubMed: Stephenson 2022 - - De novo - - - - - DNA arrayCGH - - NDD Pat9 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_152854578)_(156285170_?)del g.(?_151933426)_(155364018_?)del - arr[GRCH37] 4q31.3q32.1(152854578_156285170)x1 dn FBXW7_000030 - PubMed: Stephenson 2022 - - De novo - - - - - DNA arraySNP - - NDD Pat10 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
?/. - c.38G>T r.(?) p.(Arg13Leu) Unknown - VUS g.153332918C>A - FBXW7(NM_033632.3):c.38G>T (p.(Arg13Leu)) - FBXW7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>A r.(?) p.(Gly21Asp) Unknown - VUS g.153332894C>T - FBXW7(NM_033632.3):c.62G>A (p.(Gly21Asp)) - FBXW7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.298G>T r.(?) p.(Glu100*) Unknown - VUS g.153332658C>A - FBXW7(NM_001349798.2):c.298G>T (p.E100*) - FBXW7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308A>C r.(?) p.(Glu103Ala) Unknown - VUS g.153332648T>G - - - FBXW7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.310del r.(?) p.(His104MetfsTer65) Unknown - VUS g.153332646del g.152411494del NM_033632.3:c.310delC (His104Metfs*65) - FBXW7_000003 - PubMed: Lhota 2016 - - Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.349_351del r.(?) p.(Glu117del) Unknown - VUS g.153332617_153332619del - FBXW7(NM_033632.3):c.349_351delGAG (p.E117del) - FBXW7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.431C>T r.(?) p.(Thr144Met) Unknown - likely benign g.153332525G>A - - - FBXW7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.460G>A r.(?) p.(Val154Ile) Unknown - likely benign g.153332496C>T - FBXW7(NM_001349798.2):c.460G>A (p.(Val154Ile)) - FBXW7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501+29101T>G r.(=) p.(=) Unknown - likely benign g.153303354A>C g.152382202A>C FBXW7(NM_001013415.1):c.134T>G (p.(Phe45Cys)) - FBXW7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502-2606A>T r.(=) p.(=) Unknown - likely benign g.153273882T>A - FBXW7(NM_018315.4):c.1A>T (p.(Met1?)) - FBXW7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502-2595G>A r.(=) p.(=) Unknown - likely benign g.153273871C>T - FBXW7(NM_018315.5):c.12G>A (p.P4=) - FBXW7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.536G>A r.(?) p.(Arg179His) Unknown - VUS g.153271242C>T - FBXW7(NM_001349798.2):c.536G>A (p.(Arg179His)) - FBXW7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566A>G r.(?) p.(Lys189Arg) Unknown - likely benign g.153271212T>C - FBXW7(NM_001349798.2):c.566A>G (p.(Lys189Arg)) - FBXW7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1157_1159del r.(?) p.(Cys386del) Unknown - likely pathogenic g.153250902_153250904del - - - FBXW7_000027 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1236+2T>A r.spl? p.? Unknown - likely pathogenic g.153250822A>T - FBXW7(NM_001349798.2):c.1236+2T>A - FBXW7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i c.1236+2T>A r.spl p.? Unknown - pathogenic (dominant) g.153250822A>T g.152329670A>T - - FBXW7_000007 carrier of VLCADD variant (low VLCAD activity) PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat8 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 11 c.1246A>G r.(?) p.(Thr416Ala) Maternal (confirmed) - pathogenic (dominant) g.153249532T>C g.152328380T>C - - FBXW7_000049 - PubMed: Stephenson 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Stephenson 2022 2-generation family, affected daugther/mother F no - - - - - - 1 Johan den Dunnen
+/. 11 c.1247C>T r.(?) p.(Thr416Ile) Unknown - pathogenic (dominant) g.153249531G>A g.152328379G>A - - FBXW7_000048 - PubMed: Stephenson 2022 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - trio WES NDD Pat11 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. 11 c.1259A>T r.(?) p.(His420Leu) Unknown - pathogenic (dominant) g.153249519T>A g.152328367T>A - - FBXW7_000047 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat13 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
+/. 11 c.1267G>A r.(?) p.(Gly423Arg) Unknown - pathogenic (dominant) g.153249511C>T g.152328359C>T - - FBXW7_000046 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat14 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 11 c.1267G>A r.(?) p.(Gly423Arg) Unknown - pathogenic (dominant) g.153249511C>T g.152328359C>T - - FBXW7_000046 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat15 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no Macedonia - - - - - 1 Johan den Dunnen
?/. - c.1297A>T r.(?) p.(Ile433Phe) Unknown - VUS g.153249481T>A - FBXW7(NM_001349798.2):c.1297A>T (p.(Ile433Phe)) - FBXW7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1321C>G r.(?) p.(Arg441Gly) Unknown - pathogenic (dominant) g.153249457G>C g.152328305G>C - - FBXW7_000045 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat16 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 11 c.1331_1332del r.(?) p.(Lys444SerfsTer27) Unknown - pathogenic (dominant) g.153249447_153249448del g.152328295_152328296del - - FBXW7_000029 carries not specified PDP2 variant PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat1 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
+/. 11 c.1332dup r.(?) p.(Val445SerfsTer27) Unknown - pathogenic (dominant) g.153249448dup g.152328296dup - - FBXW7_000044 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+?/. - c.1379A>G r.(?) p.(His460Arg) Unknown - likely pathogenic g.153249399T>C - FBXW7(NM_001349798.2):c.1379A>G (p.H460R) - FBXW7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1384T>C r.(?) p.(Ser462Pro) Unknown - pathogenic (dominant) g.153249394A>G g.152328242A>G - - FBXW7_000043 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Pat17 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.1385C>A r.(?) p.(Ser462Tyr) Unknown - pathogenic g.153249393G>T - - - FBXW7_000026 - - - rs2126513281 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1394G>A r.(?) p.(Arg465His) Unknown - pathogenic (dominant) g.153249384C>T g.152328232C>T - - FBXW7_000042 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat18 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 12 c.1436G>A r.(?) p.(Arg479Gln) Unknown - pathogenic (dominant) g.153247366C>T g.152326214C>T - - FBXW7_000041 post-zygotic mosaicism (0.14) PubMed: Stephenson 2022 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES NDD Pat19 PubMed: Angelini 2019, PubMed: Stephenson 2022 4-generation family, 1 affected, unaffected non-carrier parents (FBXW7); 10 carry CACNA1A variant (6F, 4M) M no France - - - - - 1 Johan den Dunnen
+/. 12 c.1439A>G r.(?) p.(Asp480Gly) Unknown - pathogenic (dominant) g.153247363T>C g.152326211T>C - - FBXW7_000040 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat20 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 12 c.1514G>A r.(?) p.(Arg505His) Unknown - pathogenic (dominant) g.153247288C>T g.152326136C>T - - FBXW7_000039 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat21 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
?/. - c.1615G>A r.(?) p.(Gly539Arg) Unknown - VUS g.153247187C>T - - - FBXW7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1631T>G r.(?) p.(Val544Gly) Unknown - pathogenic (dominant) g.153247171A>C g.152326019A>C - - FBXW7_000028 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat22 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - 1 Johan den Dunnen
?/. - c.1631T>G r.(?) p.(Val544Gly) Parent #1 - VUS g.153247171A>C g.152326019A>C - - FBXW7_000028 - PubMed: Stephenson 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat22 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 13 c.1713_1714del r.(?) p.(Asn572LeufsTer32) Unknown - pathogenic (dominant) g.153245477_153245478del g.152324325_152324326del - - FBXW7_000038 - PubMed: Stephenson 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS family NDD FamPat6 PubMed: Stephenson 2022 2-generation family, affected father/3 daughters M no - - - - - - 4 Johan den Dunnen
+/. 13 c.1713_1714del r.(?) p.(Asn572LeufsTer32) Paternal (confirmed) - pathogenic (dominant) g.153245477_153245478del g.152324325_152324326del - - FBXW7_000038 - PubMed: Stephenson 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS family NDD FamPat3 PubMed: Stephenson 2022 daugther F no - - - - - - 1 Johan den Dunnen
+/. 13 c.1713_1714del r.(?) p.(Asn572LeufsTer32) Paternal (confirmed) - pathogenic (dominant) g.153245477_153245478del g.152324325_152324326del - - FBXW7_000038 - PubMed: Stephenson 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS family NDD FamPat4 PubMed: Stephenson 2022 daugther F no - - - - - - 1 Johan den Dunnen
+/. 13 c.1713_1714del r.(?) p.(Asn572LeufsTer32) Paternal (confirmed) - pathogenic (dominant) g.153245477_153245478del g.152324325_152324326del - - FBXW7_000038 - PubMed: Stephenson 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS family NDD FamPat5 PubMed: Stephenson 2022 daugther F no - - - - - - 1 Johan den Dunnen
+/. 13 c.1738C>T r.(?) p.(His580Tyr) Unknown - pathogenic (dominant) g.153245453G>A g.152324301G>A - - FBXW7_000037 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat23 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
+/. 13 c.1744T>G r.(?) p.(Ser582Ala) Unknown - pathogenic (dominant) g.153245447A>C g.152324295A>C - - FBXW7_000036 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat24 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - 1 Johan den Dunnen
+/. 13 c.1796C>T r.(?) p.(Ala599Val) Unknown - pathogenic (dominant) g.153245395G>A g.152324243G>A - - FBXW7_000035 mosaicism (0.23) PubMed: Stephenson 2022 - - Somatic - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat25 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. 13 c.1822A>G r.(?) p.(Ile608Val) Unknown - pathogenic (dominant) g.153245369T>C g.152324217T>C - - FBXW7_000034 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat28 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - white - - - - 1 Johan den Dunnen
+/. 14 c.1877C>T r.(?) p.(Ala626Val) Unknown - pathogenic (dominant) g.153244280G>A g.152323128G>A - - FBXW7_000033 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat26 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - white - - - - 1 Johan den Dunnen
+/. 14 c.1920C>A r.(?) p.(Ser640Arg) Unknown - pathogenic (dominant) g.153244237G>T g.152323085G>T NM_033632.3:c.1920C>A - FBXW7_000010 - PubMed: Gostain 2020, PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WGS NDD CMC17;Pat27 PubMed: Gostain 2020, PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents F no Canada - - - - - 1 Johan den Dunnen
?/. - c.1922C>G r.(?) p.(Ser641*) Unknown - VUS g.153244235G>C - FBXW7(NM_033632.3):c.1922C>G (p.(Ser641*)) - FBXW7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1939A>T r.(?) p.(Lys647Ter) Unknown - pathogenic (dominant) g.153244218T>A g.152323066T>A - - FBXW7_000032 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
-?/. - c.2020C>A r.(?) p.(Arg674=) Unknown - likely benign g.153244137G>T - FBXW7(NM_033632.3):c.2020C>A (p.R674=) - FBXW7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2020C>A r.(?) p.(Arg674=) Unknown - likely benign g.153244137G>T - FBXW7(NM_033632.3):c.2020C>A (p.R674=) - FBXW7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2020C>T r.(?) p.(Arg674Trp) Unknown - likely pathogenic g.153244137G>A - - - FBXW7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.2020C>T r.(?) p.(Arg674Trp) Unknown - pathogenic (dominant) g.153244137G>A g.152322985G>A - - FBXW7_000021 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat30 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 14 c.2020C>T r.(?) p.(Arg674Trp) Unknown - pathogenic (dominant) g.153244137G>A g.152322985G>A - - FBXW7_000021 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat31 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.2021G>C r.(?) p.(Arg674Pro) Unknown - pathogenic g.153244136C>G - - - FBXW7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.2021G>C r.(?) p.(Arg674Pro) Unknown - pathogenic (dominant) g.153244136C>G g.152322984C>G - - FBXW7_000018 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat29 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
?/. - c.2065C>T r.(?) p.(Arg689Trp) Unknown - VUS g.153244092G>A g.152322940G>A - - FBXW7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2065C>T r.(?) p.(Arg689Trp) Unknown - pathogenic g.153244092G>A - - - FBXW7_000002 - - - rs2126459661 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.2065C>T r.(?) p.(Arg689Trp) Unknown - pathogenic (dominant) g.153244092G>A g.152322940G>A - - FBXW7_000002 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat33 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 14 c.2065C>T r.(?) p.(Arg689Trp) Unknown - pathogenic (dominant) g.153244092G>A g.152322940G>A - - FBXW7_000002 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat34 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 14 c.2065C>T r.(?) p.(Arg689Trp) Unknown - pathogenic (dominant) g.153244092G>A g.152322940G>A - - FBXW7_000002 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat35 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 14 c.2066G>A r.(?) p.(Arg689Gln) Unknown - pathogenic (dominant) g.153244091C>T g.152322939C>T - - FBXW7_000031 - PubMed: Stephenson 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat32 PubMed: Stephenson 2022 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.