Full data view for gene SCN4B

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

59 entries on 1 page. Showing entries 1 - 59.
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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     
?/. 1 c.-212C>T r.(=) p.(=) Unknown - VUS g.118047358G>A g.118176643G>A - - SCN2B_000002 - PubMed: Peeters 2015 - - Unknown ? - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no - AFRICAN - 0 - - 1 Uschi Peeters
-?/. - c.18C>A r.(?) p.(Asp6Glu) Unknown - likely benign g.118023371G>T g.118152656G>T SCN4B(NM_174934.3):c.18C>A (p.D6E) - SCN4B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.18C>A r.(?) p.(Asp6Glu) Unknown - likely benign g.118023371G>T - SCN4B(NM_174934.3):c.18C>A (p.D6E) - SCN4B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.21A>G r.(?) p.(Gly7=) Unknown - benign g.118023368T>C g.118152653T>C SCN4B(NM_174934.3):c.21A>G (p.G7=) - SCN4B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22G>A r.(?) p.(Gly8Ser) Parent #1 - VUS g.118023367C>T g.118152652C>T - - SCN4B_000026 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149868494 Germline - 12/2771 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 12 Mohammed Faruq
-?/. - c.22G>A r.(?) p.(Gly8Ser) Unknown - likely benign g.118023367C>T - SCN4B(NM_174934.3):c.22G>A (p.G8S) - SCN4B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T r.(?) p.(Ala12Val) Unknown - VUS g.118023354G>A g.118152639G>A SCN4B(NM_174934.3):c.35C>T (p.A12V) - SCN4B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35523653G>A g.35032749G>A - - SCN1B_000015 - PubMed: Peeters 2015 - rs147990128 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
?/. - c.40+15G>T r.(?) p.(=) Unknown - VUS g.35521779G>T g.35030875G>T - - SCN4B_000005 - PubMed: Peeters 2015 - rs72556351 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
./. - c.61+1221G>A - p.(=) Both (homozygous) - VUS g.118022107C>T g.118151392C>T - - SCN4B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.62-13G>A r.(=) p.(=) Unknown - benign g.118015957C>T g.118145242C>T SCN4B(NM_174934.3):c.62-13G>A - SCN4B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.78C>T r.(?) p.(Pro26=) Unknown - benign g.118015928G>A g.118145213G>A SCN4B(NM_174934.3):c.78C>T (p.P26=) - SCN4B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.99G>A r.(?) p.(Val33=) Unknown - VUS g.118015907C>T g.118145192C>T SCN4B(NM_174934.3):c.99G>A (p.V33=) - SCN4B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.115A>G r.(?) p.(Thr39Ala) Unknown - VUS g.118015891T>C g.118145176T>C SCN4B(NM_174934.3):c.115A>G (p.T39A) - SCN4B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141G>A r.(?) p.(Thr47=) Unknown - likely benign g.118015865C>T g.118145150C>T - - SCN4B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>G r.(?) p.(Pro52Arg) Unknown - VUS g.118015851G>C g.118145136G>C - - SCN4B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T r.(?) p.(Cys58=) Unknown - benign g.118015832G>A g.118145117G>A SCN4B(NM_174934.3):c.174C>T (p.C58=) - SCN3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T r.(?) p.(Cys58=) Unknown - benign g.118015832G>A g.118145117G>A SCN4B(NM_174934.3):c.174C>T (p.C58=) - SCN3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>T r.(=) p.(=) Parent #1 - likely benign g.118015832G>A g.118145117G>A - - SCN3B_000008 185 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45539032 Germline - 185/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 185 Mohammed Faruq
-?/. - c.174C>T r.(=) p.(=) Both (homozygous) - likely benign g.118015832G>A g.118145117G>A - - SCN3B_000008 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45539032 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.194A>T r.(?) p.(His65Leu) Unknown - VUS g.118015812T>A g.118145097T>A SCN4B(NM_174934.3):c.194A>T (p.H65L) - SCN4B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.194A>T r.(?) p.(His65Leu) Unknown - likely benign g.118015812T>A g.118145097T>A SCN4B(NM_174934.3):c.194A>T (p.H65L) - SCN4B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194A>T r.(?) p.(His65Leu) Unknown - likely benign g.118015812T>A - SCN4B(NM_174934.3):c.194A>T (p.H65L) - SCN4B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208T>C r.(?) p.(Tyr70His) Unknown - VUS g.118015798A>G g.118145083A>G SCN4B(NM_174934.3):c.208T>C (p.Y70H) - SCN4B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208T>C r.(?) p.(Tyr70His) Unknown - VUS g.118015798A>G - SCN4B(NM_174934.3):c.208T>C (p.Y70H) - SCN4B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362T>C r.(?) p.(Leu121Pro) Unknown - VUS g.118014649A>G g.118143934A>G - - SCN4B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.378G>A r.(?) p.(Thr126=) Unknown - likely benign g.118014633C>T g.118143918C>T SCN4B(NM_174934.3):c.378G>A (p.T126=) - SCN4B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.378G>A r.(?) p.(Thr126=) Unknown - likely benign g.118014633C>T g.118143918C>T SCN4B(NM_174934.3):c.378G>A (p.T126=) - SCN4B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432C>T r.(?) p.(His144=) Unknown - benign g.118014579G>A g.118143864G>A SCN4B(NM_174934.3):c.432C>T (p.H144=) - SCN4B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513C>T r.(?) p.(Gly171=) Unknown - likely benign g.118012002G>A - - - SCN4B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.542T>C r.(?) p.(Leu181Pro) Unknown - likely benign g.118011973A>G g.118141258A>G - - SCN4B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597G>A r.(?) p.(Lys199=) Unknown - benign g.118007832C>T g.118137117C>T SCN4B(NM_174934.3):c.597G>A (p.K199=) - SCN4B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607G>A r.(?) p.(Val203Met) Unknown - VUS g.118007822C>T g.118137107C>T SCN4B(NM_174934.3):c.607G>A (p.V203M) - SCN4B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.613T>C r.(?) p.(Ser205Pro) Unknown - VUS g.118007816A>G g.118137101A>G - - SCN4B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632C>G r.(?) p.(Thr211Arg) Unknown - VUS g.118007797G>C g.118137082G>C SCN4B(NM_174934.3):c.632C>G (p.T211R) - SCN4B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.632C>G r.(?) p.(Thr211Arg) Unknown - VUS g.118007797G>C g.118137082G>C SCN4B(NM_174934.3):c.632C>G (p.T211R) - SCN4B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632C>G r.(?) p.(Thr211Arg) Unknown - VUS g.118007797G>C g.118137082G>C SCN4B(NM_174934.3):c.632C>G (p.T211R) - SCN4B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.639C>T r.(?) p.(=) Unknown - VUS g.118007790G>A g.118137075G>A - - SCN4B_000004 - PubMed: Peeters 2015 - rs72544155 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Turkey Turkish - 0 - - 1 Uschi Peeters
?/. 5 c.639C>T r.(?) p.(=) Unknown - VUS g.118007790G>A g.118137075G>A - - SCN4B_000004 - PubMed: Peeters 2015 - rs72544155 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Italy caucasian - 0 - - 1 Uschi Peeters
?/. 5 c.639C>T r.(?) p.(=) Unknown - VUS g.118007790G>A g.118137075G>A - - SCN4B_000004 - PubMed: Peeters 2015 - rs72544155 Unknown - - - 0 - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium caucasian - 0 - - 1 Uschi Peeters
-/. - c.639C>T r.(?) p.(Asn213=) Unknown - benign g.118007790G>A g.118137075G>A SCN4B(NM_174934.3):c.639C>T (p.N213=) - SCN4B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.639C>T r.(?) p.(Asn213=) Unknown - benign g.118007790G>A g.118137075G>A SCN4B(NM_174934.3):c.639C>T (p.N213=) - SCN4B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.639C>T r.(?) p.(Asn213=) Unknown - benign g.118007790G>A g.118137075G>A SCN4B(NM_174934.3):c.639C>T (p.N213=) - SCN4B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651C>T r.(?) p.(Gly217=) Unknown - benign g.118007778G>A g.118137063G>A SCN4B(NM_174934.3):c.651C>T (p.G217=) - SCN4B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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