All variants in the SCN9A gene

Information The variants shown are described using the NM_002977.3 transcript reference sequence.

394 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
?/. - c.20C>T r.(?) p.(Pro7Leu) - - VUS g.167168247G>A g.166311737G>A SCN9A(NM_002977.3):c.20C>T (p.P7L) - SCN9A_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.77G>C r.(?) p.(Arg26Pro) - - VUS g.167168190C>G g.166311680C>G - - SCN9A_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.77G>T r.(?) p.(Arg26Leu) - - VUS g.167168190C>A g.166311680C>A - - SCN9A_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.118A>G r.(?) p.(Lys40Glu) - - VUS g.167168149T>C g.166311639T>C - - SCN9A_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.129T>C r.(?) p.(Asp43=) - - likely benign g.167168138A>G g.166311628A>G SCN9A(NM_002977.3):c.129T>C (p.D43=, p.=) - SCN9A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.129T>C r.(?) p.(Asp43=) - - likely benign g.167168138A>G g.166311628A>G SCN9A(NM_002977.3):c.129T>C (p.D43=, p.=) - SCN9A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.129T>C r.(?) p.(Asp43=) - - likely benign g.167168138A>G g.166311628A>G SCN9A(NM_002977.3):c.129T>C (p.D43=, p.=) - SCN9A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.174G>A r.(=) p.(=) - - benign g.167168093C>T g.166311583C>T - - SCN9A_000008 - - - rs6432901 Germline - - - 0 - Andreas Laner
-/. - c.174G>A r.(?) p.(Gln58=) - - benign g.167168093C>T g.166311583C>T SCN9A(NM_002977.3):c.174G>A (p.Q58=) - SCN9A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.174G>A r.(?) p.(Gln58=) - - benign g.167168093C>T g.166311583C>T SCN9A(NM_002977.3):c.174G>A (p.Q58=) - SCN9A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.174G>A r.(?) p.(Gln58=) - - benign g.167168093C>T g.166311583C>T SCN9A(NM_002977.3):c.174G>A (p.Q58=) - SCN9A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 2 c.174G>A r.(?) p.(Gln58=) N-terminus - pathogenic g.167168093C>T g.166311583C>T - - SCN9A_000008 - PubMed: Drenth 2005 - - Germline - - - 0 - Christoph Lossin
+/. 2 c.184A>G r.(?) p.(Ile62Val) N-terminus - pathogenic g.167168083T>C g.166311573T>C - - SCN9A_000012 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin
-?/. - c.204C>T r.(?) p.(Pro68=) - - likely benign g.167168063G>A g.166311553G>A - - SCN9A_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.240C>T r.(?) p.(Pro80=) - - likely benign g.167168027G>A g.166311517G>A - - SCN9A_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.252C>T r.(?) p.(Asp84=) - - likely benign g.167168015G>A g.166311505G>A - - SCN9A_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.259-79G>A r.(=) p.(=) - - benign g.167163663C>T g.166307153C>T - - SCN9A_000094 - - - rs4447616 Germline - - - 0 - Andreas Laner
./. - c.269T>C r.(?) p.(Val90Ala) - - VUS g.167163574A>G g.166307064A>G - - SCN9A_000108 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
./. - c.294C>A r.(?) p.(Phe98Leu) - - VUS g.167163549G>T g.166307039G>T - - SCN9A_000107 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs199824489 Germline - 1/567 controls - 0 - Dheeraj Bobbili
?/. - c.361A>C r.(?) p.(Lys121Gln) - - VUS g.167163482T>G g.166306972T>G SCN9A(NM_002977.3):c.361A>C (p.K121Q) - SCN9A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.361A>C r.(?) p.(Lys121Gln) - - VUS g.167163482T>G g.166306972T>G SCN9A(NM_002977.3):c.361A>C (p.K121Q) - SCN9A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.371T>C r.(?) p.(Val124Ala) - - VUS g.167163472A>G - - - SCN9A_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.377+92dup r.(=) p.(=) - - benign g.167163375dup g.166306865dup SCN9A(NM_002977.3):c.377+92dupT - SCN9A_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.377+93G>T r.(=) p.(=) - - benign g.167163373C>A g.166306863C>A - - SCN9A_000011 - - - rs4443015 Germline - - - 0 - Andreas Laner
-/. - c.377+93G>T r.(=) p.(=) - - benign g.167163373C>A g.166306863C>A SCN9A(NM_002977.3):c.377+93G>T - SCN9A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.377+94A>G r.(=) p.(=) - - benign g.167163372T>C g.166306862T>C - - SCN9A_000001 - - - rs58349687 Germline - - - 0 - Andreas Laner
-/. - c.377+94A>G r.(=) p.(=) - - benign g.167163372T>C g.166306862T>C SCN9A(NM_002977.3):c.377+94A>G - SCN9A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 3i c.377+94A>G r.(=) p.(=) - - VUS g.167163372T>C g.166306862T>C - - SCN9A_000001 - Lossin, unpublished data - - Germline - - - 0 - Christoph Lossin
?/. 3i c.378-90T>A r.(=) p.(=) - - VUS g.167163199A>T g.166306689A>T - - SCN9A_000002 - Lossin, unpublished data - - Germline - - - 0 - Christoph Lossin
+/. 4 c.406A>G r.(?) p.(Ile136Val) D1/S1 - pathogenic g.167163081T>C g.166306571T>C - - SCN9A_000013 - PubMed: Cheng 2008 - - Germline - - - 0 - Christoph Lossin
-/. - c.444A>G r.(=) p.(=) - - benign g.167163043T>C g.166306533T>C - - SCN9A_000009 - - - rs964677 Germline - - - 0 - Andreas Laner
-/. - c.444A>G r.(?) p.(Pro148=) - - benign g.167163043T>C g.166306533T>C SCN9A(NM_002977.3):c.444A>G (p.P148=) - SCN9A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.444A>G r.(?) p.(Pro148=) - - benign g.167163043T>C g.166306533T>C SCN9A(NM_002977.3):c.444A>G (p.P148=) - SCN9A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 2 c.444A>G r.(?) p.(Pro148=) D1/S1-S2ex - pathogenic g.167163043T>C g.166306533T>C P148P - SCN9A_000009 - PubMed: Drenth 2005 - - Germline - - - 0 - Christoph Lossin
+/. 4 c.446C>A r.(?) p.(Pro149Gln) D1/S1-S2ex - pathogenic g.167163041G>T g.166306531G>T - - SCN9A_000014 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin
?/. - c.457A>C r.(?) p.(Lys153Gln) - - VUS g.167163030T>G g.166306520T>G SCN9A(NM_002977.3):c.457A>C (p.K153Q) - SCN9A_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.465C>T r.(?) p.(Val155=) - - likely benign g.167163022G>A g.166306512G>A - - SCN9A_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.554G>A r.(?) p.(Arg185His) - - benign g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.554G>A r.(?) p.(Arg185His) - - benign g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.554G>A r.(?) p.(Arg185His) - - VUS g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.554G>A r.(?) p.(Arg185His) - - likely benign g.167162344C>T g.166305834C>T - - SCN9A_000150 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73969684 Germline - 8/2795 individuals - 0 - Mohammed Faruq
-?/. - c.554G>A r.(?) p.(Arg185His) - - likely benign g.167162344C>T g.166305834C>T - - SCN9A_000150 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.023 - 0 - Global Variome, with Curator vacancy
-/. - c.596+25C>T r.(=) p.(=) - - benign g.167162277G>A g.166305767G>A - - SCN9A_000003 - - - rs4429487 Germline - - - 0 - Andreas Laner
?/. 5i c.596+25C>T r.(=) p.(=) - - VUS g.167162277G>A g.166305767G>A - - SCN9A_000003 - Lossin, unpublished data - - Germline - - - 0 - Christoph Lossin
?/. - c.599A>G r.(?) p.(Tyr200Cys) - - VUS g.167160837T>C g.166304327T>C - - SCN9A_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 6 c.601T>G r.(?) p.(Leu201Val) D1/S3 - pathogenic g.167160835A>C g.166304325A>C - - SCN9A_000015 - PubMed: Hisama 2006. - - Germline - - - 0 - Christoph Lossin
+/. 6 c.616A>G r.(?) p.(Asn206Asp) D1/S3-S4ex - pathogenic g.167160820T>C g.166304310T>C - - SCN9A_000016 - PubMed: Hisama 2006. - - Germline - - - 0 - Christoph Lossin
?/. - c.619C>G r.(?) p.(Leu207Val) - - VUS g.167160817G>C g.166304307G>C - - SCN9A_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 6 c.647T>C r.(?) p.(Phe216Ser) D1/S4 - pathogenic g.167160789A>G g.166304279A>G - - SCN9A_000017 - PubMed: Drenth 2005 - - Germline - - - 0 - Christoph Lossin
-?/. - c.655T>C r.(?) p.(Leu219=) - - likely benign g.167160781A>G g.166304271A>G - - SCN9A_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 6 c.684C>G r.(?) p.(Ile228Met) D1/S4 - pathogenic g.167160752G>C g.166304242G>C - - SCN9A_000018 - PubMed: Singh 2009 - - Germline - - - 0 - Christoph Lossin
-?/. - c.688+9T>C r.(=) p.(=) - - likely benign g.167160739A>G g.166304229A>G SCN9A(NM_002977.3):c.688+9T>C - SCN9A_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.688+13T>C r.(=) p.(=) - - benign g.167160735A>G g.166304225A>G - - SCN9A_000080 - - - rs7444988 Germline - - - 0 - Andreas Laner
-/. - c.688+13T>C r.(=) p.(=) - - benign g.167160735A>G g.166304225A>G SCN9A(NM_002977.3):c.688+13T>C - SCN9A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 6i c.689-217A>G r.(=) p.(=) - - VUS g.167160029T>C g.166303519T>C - - SCN9A_000004 - Lossin, unpublished data - - Germline - - - 0 - Christoph Lossin
?/. - c.715A>G r.(?) p.(Ile239Val) - - VUS g.167159786T>C g.166303276T>C SCN9A(NM_002977.3):c.715A>G (p.I239V) - SCN9A_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 7 c.721T>A r.(?) p.(Ser241Thr) D1/S4-S5in - pathogenic g.167159780A>T g.166303270A>T - - SCN9A_000019 - PubMed: Lampert 2006 - - Germline - - - 0 - Christoph Lossin
+/. 7 c.774_775del r.(?) p.(Val258Valfs*16) D1/S5 - pathogenic g.167159730_167159731del g.166303220_166303221del 774_775delGT - SCN9A_000020 - PubMed: Nilsen 2009 - - Germline - - - 0 - Christoph Lossin
?/. - c.796C>A r.(?) p.(Leu266Met) - - VUS g.167159705G>T g.166303195G>T - - SCN9A_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7 c.829C>T r.(?) p.(Arg277*) P1 - pathogenic g.167159672G>A g.166303162G>A - - SCN9A_000021 - PubMed: Goldberg 2007 - - Germline - - - 0 - Christoph Lossin
-?/. - c.876C>T r.(?) p.(Thr292=) - - likely benign g.167159625G>A g.166303115G>A - - SCN9A_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.965+13T>C r.(=) p.(=) - - likely benign g.167151096A>G g.166294586A>G - - SCN9A_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.966-8G>A r.(=) p.(=) - - likely benign g.167149890C>T g.166293380C>T SCN9A(NM_002977.3):c.966-8G>A - SCN9A_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.966-8G>A r.(=) p.(=) - - likely benign g.167149890C>T - SCN9A(NM_002977.3):c.966-8G>A - SCN9A_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 9 c.984C>A r.(?) p.(Tyr328*) P1 - pathogenic g.167149864G>T g.166293354G>T - - SCN9A_000022 - PubMed: Goldberg 2007 - - Germline - - - 0 - Christoph Lossin
?/. - c.1007A>C r.(?) p.(Asn336Thr) - - VUS g.167149841T>G g.166293331T>G - - SCN9A_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1107+41A>G r.(=) p.(=) - - benign g.167149700T>C g.166293190T>C - - SCN9A_000079 - - - rs41268675 Germline - - - 0 - Andreas Laner
-/. - c.1107+48C>T r.(=) p.(=) - - benign g.167149693G>A g.166293183G>A - - SCN9A_000078 - - - rs7588632 Germline - - - 0 - Andreas Laner
?/. - c.1109C>T r.(?) p.(Thr370Met) - - VUS g.167145152G>A g.166288642G>A - - SCN9A_000251 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200391162 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-/. - c.1110G>A r.(?) p.(Thr370=) - - benign g.167145151C>T g.166288641C>T SCN9A(NM_002977.3):c.1110G>A (p.T370=) - SCN9A_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1110G>A r.(?) p.(Thr370=) - - likely benign g.167145151C>T - SCN9A(NM_002977.3):c.1110G>A (p.T370=) - SCN9A_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1119T>C r.(=) p.(=) - - benign g.167145142A>G g.166288632A>G - - SCN9A_000023 - - - rs13414203 Germline - - - 0 - Andreas Laner
-/. - c.1119T>C r.(?) p.(Ala373=) - - benign g.167145142A>G g.166288632A>G SCN1A-AS1(NR_110260.1):n.1030-5933A>G, SCN9A(NM_002977.3):c.1119T>C (p.A373=) - SCN9A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1119T>C r.(?) p.(Ala373=) - - benign g.167145142A>G g.166288632A>G SCN1A-AS1(NR_110260.1):n.1030-5933A>G, SCN9A(NM_002977.3):c.1119T>C (p.A373=) - SCN9A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 10 c.1119T>C r.(?) p.(=) P1 - VUS g.167145142A>G g.166288632A>G A373A - SCN9A_000023 - PubMed: Drenth 2005 - rs13414203 Germline - - - 0 - Christoph Lossin
?/. - c.1143_1145del r.(?) p.(Phe382del) - - VUS g.167145120_167145122del g.166288610_166288612del - - SCN9A_000076 - - - - Germline - - - 0 - Andreas Laner
-/. - c.1155G>T r.(?) p.(Val385=) - - benign g.167145106C>A g.166288596C>A SCN9A(NM_002977.3):c.1155G>T (p.V385=) - SCN9A_000147 VKGL data sharing initiative Nederland - - rs58465962 CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1155G>T r.(?) p.(Val385=) - - benign g.167145106C>A g.166288596C>A SCN9A(NM_002977.3):c.1155G>T (p.V385=) - SCN9A_000147 VKGL data sharing initiative Nederland - - rs58465962 CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1155G>T r.(?) p.(Val385=) - - benign g.167145106C>A g.166288596C>A SCN9A(NM_002977.3):c.1155G>T (p.V385=) - SCN9A_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1177C>T r.(?) p.(Leu393=) - - likely benign g.167145084G>A g.166288574G>A - - SCN9A_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 10 c.1185C>A r.(?) p.(Asn395Lys) D1/S6 - pathogenic g.167145076G>T g.166288566G>T N395K - SCN9A_000024 - PubMed: Drenth 2005 - - Germline - - - 0 - Christoph Lossin
-/. - c.1266A>G r.(=) p.(=) - - benign g.167144995T>C g.166288485T>C - - SCN9A_000025 - - - rs13402180 Germline - - - 0 - Andreas Laner
-/. - c.1266A>G r.(?) p.(Glu422=) - - benign g.167144995T>C g.166288485T>C SCN1A-AS1(NR_110260.1):n.1030-6080T>C, SCN9A(NM_002977.3):c.1266A>G (p.E422=) - SCN9A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1266A>G r.(?) p.(Glu422=) - - benign g.167144995T>C g.166288485T>C SCN1A-AS1(NR_110260.1):n.1030-6080T>C, SCN9A(NM_002977.3):c.1266A>G (p.E422=) - SCN9A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 10 c.1266A>G r.(?) p.(=) L1 - VUS g.167144995T>C g.166288485T>C E422E - SCN9A_000025 - PubMed: Drenth 2005 - rs13402180 Germline - - - 0 - Christoph Lossin
-/. - c.1287T>A r.(=) p.(=) - - benign g.167144974A>T g.166288464A>T - - SCN9A_000026 - - - rs6747673 Germline - - - 0 - Andreas Laner
-/. - c.1287T>A r.(?) p.(Arg429=) - - benign g.167144974A>T g.166288464A>T SCN1A-AS1(NR_110260.1):n.1030-6101A>T, SCN9A(NM_002977.3):c.1287T>A (p.R429=) - SCN9A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1287T>A r.(?) p.(Arg429=) - - benign g.167144974A>T g.166288464A>T SCN1A-AS1(NR_110260.1):n.1030-6101A>T, SCN9A(NM_002977.3):c.1287T>A (p.R429=) - SCN9A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 10 c.1287T>A r.(?) p.(=) L1 - VUS g.167144974A>T g.166288464A>T R429R - SCN9A_000026 - PubMed: Drenth 2005 - rs6747673 Germline - - - 0 - Christoph Lossin
?/. - c.1318A>G r.(?) p.(Ile440Val) - - VUS g.167143130T>C g.166286620T>C SCN9A(NM_002977.3):c.1318A>G (p.I440V) - SCN9A_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1326G>A r.(?) p.(Ala442=) - - likely benign g.167143122C>T g.166286612C>T - - SCN9A_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1331C>T r.(?) p.(Ala444Val) - - likely benign g.167143117G>A g.166286607G>A - - SCN9A_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1348A>G r.(?) p.(Ile450Val) - - VUS g.167143100T>C g.166286590T>C - - SCN9A_000158 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1376C>G r.(?) p.(Ser459*) L1 - pathogenic g.167143072G>C g.166286562G>C S459X - SCN9A_000027 - PubMed: Cox 2006 - - Germline - - - 0 - Christoph Lossin
+/. - c.1376C>G r.(?) p.(Ser459*) - - pathogenic (recessive) g.167143072G>C g.166286562G>C - - SCN9A_000027 - PubMed: Antoniadi 2015 - rs121908908 Germline - - - 0 - Johan den Dunnen
+/. - c.1376C>G r.(?) p.(Ser459*) - - pathogenic (recessive) g.167143072G>C g.166286562G>C - - SCN9A_000027 - PubMed: Antoniadi 2015 - rs121908908 Germline - - - 0 - Johan den Dunnen
-?/. - c.1398C>T r.(?) p.(Ser466=) - - likely benign g.167143050G>A g.166286540G>A SCN9A(NM_002977.3):c.1398C>T (p.S466=, p.=) - SCN9A_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1398C>T r.(?) p.(Ser466=) - - likely benign g.167143050G>A g.166286540G>A SCN9A(NM_002977.3):c.1398C>T (p.S466=, p.=) - SCN9A_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1398C>T r.(?) p.(Ser466=) - - likely benign g.167143050G>A g.166286540G>A SCN9A(NM_002977.3):c.1398C>T (p.S466=, p.=) - SCN9A_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1464C>T r.(?) p.(Leu488=) - - likely benign g.167142984G>A g.166286474G>A SCN9A(NM_002977.3):c.1464C>T (p.L488=) - SCN9A_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »