Full data view for gene RTN2

Information The variants shown are described using the NM_005619.4 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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     
-/. - c.79+7G>T r.(=) p.(=) Unknown - benign g.45998346C>A g.45495088C>A - - RTN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96T>C r.(?) p.(Ser32=) Unknown - benign g.45998247A>G g.45494989A>G - - RTN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110T>G r.(?) p.(Leu37Arg) Unknown - VUS g.45998233A>C - RTN2(NM_005619.4):c.110T>G (p.(Leu37Arg)) - PPM1N_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285A>G r.(?) p.(Glu95=) Unknown - likely benign g.45998058T>C g.45494800T>C RTN2(NM_005619.4):c.285A>G (p.E95=) - PPM1N_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351A>G r.(?) p.(Gln117=) Unknown - likely benign g.45997992T>C g.45494734T>C RTN2(NM_005619.4):c.351A>G (p.Q117=) - RTN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358G>C r.(?) p.(Glu120Gln) Unknown - VUS g.45997985C>G - RTN2(NM_005619.5):c.358G>C (p.E120Q) - PPM1N_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444C>G r.(?) p.(Gly148=) Unknown - likely benign g.45997899G>C g.45494641G>C RTN2(NM_005619.4):c.444C>G (p.G148=) - RTN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748C>A r.(?) p.(Pro250Thr) Unknown - VUS g.45997490G>T g.45494232G>T RTN2(NM_005619.5):c.748C>A (p.P250T) - PPM1N_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.792C>A r.(?) p.(Phe264Leu) Unknown - benign g.45997446G>T g.45494188G>T RTN2(NM_005619.4):c.792C>A (p.F264L) - RTN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.874A>G r.(?) p.(Ile292Val) Unknown - likely benign g.45996577T>C - RTN2(NM_005619.4):c.874A>G (p.I292V) - RTN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.938dup r.(?) p.(Thr314Tyrfs*31) Unknown - VUS g.45996519dup - RTN2(NM_005619.4):c.938dupC (p.T314Yfs*31) - RTN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.939del r.(?) p.(Thr314fs) Parent #1 - likely pathogenic g.45996512del g.45493254del - - RTN2_000001 - PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Unknown ? - - - - DNA SEQ - - SPG12 Pat4mov;Pat11 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Marcel Nelen
+/. - c.939del r.(?) p.(Thr314LeufsTer8) Unknown - pathogenic g.45996512del g.45493254del RTN2(NM_005619.4):c.939delT (p.T314Lfs*8) - RTN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038G>A r.(?) p.(Ala346=) Unknown - likely benign g.45992807C>T g.45489549C>T RTN2(NM_005619.4):c.1038G>A (p.A346=) - RTN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1087G>A r.(?) p.(Gly363Ser) Unknown - VUS g.45992758C>T - RTN2(NM_005619.5):c.1087G>A (p.G363S) - RTN2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1143G>A r.(?) p.(Ala381=) Unknown - benign g.45992702C>T g.45489444C>T RTN2(NM_005619.4):c.1143G>A (p.A381=) - RTN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1143G>A r.(?) p.(Ala381=) Unknown - benign g.45992702C>T g.45489444C>T RTN2(NM_005619.4):c.1143G>A (p.A381=) - RTN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1168G>A r.(?) p.(Gly390Ser) Unknown - likely benign g.45992677C>T g.45489419C>T RTN2(NM_005619.4):c.1168G>A (p.G390S), RTN2(NM_005619.5):c.1168G>A (p.G390S) - RTN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1168G>A r.(?) p.(Gly390Ser) Parent #1 - likely benign g.45992677C>T g.45489419C>T - - RTN2_000011 35 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143937661 Germline - 35/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 35 Mohammed Faruq
-?/. - c.1168G>A r.(?) p.(Gly390Ser) Both (homozygous) - likely benign g.45992677C>T g.45489419C>T - - RTN2_000011 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143937661 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1168G>A r.(?) p.(Gly390Ser) Unknown - likely benign g.45992677C>T - RTN2(NM_005619.4):c.1168G>A (p.G390S), RTN2(NM_005619.5):c.1168G>A (p.G390S) - RTN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1209C>T r.(?) p.(Ala403=) Unknown - benign g.45992636G>A g.45489378G>A - - RTN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1241+12C>T r.(=) p.(=) Unknown - likely benign g.45992592G>A - RTN2(NM_005619.5):c.1241+12C>T - RTN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312C>T r.(?) p.(Arg438Cys) Unknown - likely benign g.45992174G>A - RTN2(NM_005619.5):c.1312C>T (p.R438C) - RTN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1381-12del r.(=) p.(=) Unknown - likely benign g.45991977del - RTN2(NM_005619.5):c.1381-12delC - RTN2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1495C>A r.(?) p.(Gln499Lys) Unknown - VUS g.45991731G>T g.45488473G>T RTN2(NM_005619.4):c.1495C>A (p.Q499K) - RTN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1593C>T r.(?) p.(Ala531=) Unknown - benign g.45989011G>A g.45485753G>A RTN2(NM_005619.4):c.1593C>T (p.A531=) - RTN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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