Full data view for gene EFR3B

Information The variants shown are described using the NM_014971.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.*6744C>T r.(=) p.(=) Unknown - likely benign g.25383953C>T - POMC(NM_001035256.3):c.801G>A (p.E267=) - EFR3B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6839G>C r.(=) p.(=) Unknown - pathogenic g.25384048G>C g.25161179G>C POMC(NM_001035256.2):c.706C>G (p.R236G), POMC(NM_001035256.3):c.706C>G (p.R236G), POMC(NM_001319204.2):c.706C>G (p.R236G) - POMC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6839G>C r.(=) p.(=) Unknown - pathogenic g.25384048G>C g.25161179G>C POMC(NM_001035256.2):c.706C>G (p.R236G), POMC(NM_001035256.3):c.706C>G (p.R236G), POMC(NM_001319204.2):c.706C>G (p.R236G) - POMC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6839G>C r.(=) p.(=) Unknown - pathogenic g.25384048G>C - POMC(NM_001035256.2):c.706C>G (p.R236G), POMC(NM_001035256.3):c.706C>G (p.R236G), POMC(NM_001319204.2):c.706C>G (p.R236G) - POMC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6867G>T r.(=) p.(=) Unknown - VUS g.25384076G>T - POMC(NM_001035256.1):c.678C>A (p.(Phe226Leu)) - EFR3B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6883T>C r.(=) p.(=) Unknown - VUS g.25384092T>C - POMC(NM_001035256.3):c.662A>G (p.Y221C) - EFR3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6904T>C r.(=) p.(=) Unknown - likely benign g.25384113T>C g.25161244T>C POMC(NM_001035256.2):c.641A>G (p.E214G) - POMC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6920G>C r.(=) p.(=) Unknown - likely benign g.25384129G>C - POMC(NM_001035256.3):c.625C>G (p.L209V) - EFR3B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6943G>A r.(=) p.(=) Unknown - likely benign g.25384152G>A g.25161283G>A POMC(NM_001035256.2):c.602C>T (p.A201V), POMC(NM_001035256.3):c.602C>T (p.A201V) - POMC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6943G>A r.(=) p.(=) Unknown - likely benign g.25384152G>A - POMC(NM_001035256.2):c.602C>T (p.A201V), POMC(NM_001035256.3):c.602C>T (p.A201V) - POMC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6962C>T r.(=) p.(=) Unknown - likely benign g.25384171C>T - POMC(NM_001035256.2):c.583G>A (p.A195T), POMC(NM_001035256.3):c.583G>A (p.A195T) - EFR3B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6962C>T r.(=) p.(=) Unknown - likely benign g.25384171C>T - POMC(NM_001035256.2):c.583G>A (p.A195T), POMC(NM_001035256.3):c.583G>A (p.A195T) - EFR3B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*6975del r.(?) p.(=) Unknown - likely pathogenic g.25384184del - POMC(NM_001035256.3):c.573delC (p.D192Tfs*50) - EFR3B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7047G>A r.(=) p.(=) Unknown - likely benign g.25384256G>A - POMC(NM_001319204.2):c.498C>T (p.D166=) - EFR3B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7089_*7091del r.(=) p.(=) Unknown - VUS g.25384298_25384300del g.25161429_25161431del POMC(NM_001319204.1):c.457_459delAAG (p.K153del) - EFR3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7091T>C r.(=) p.(=) Unknown - VUS g.25384300T>C - POMC(NM_001035256.3):c.454A>G (p.K152E) - EFR3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*7115A>G r.(=) p.(=) Unknown - likely pathogenic g.25384324A>G g.25161455A>G POMC(NM_001035256.2):c.430T>C (p.F144L), POMC(NM_001035256.3):c.430T>C (p.F144L) - POMC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7115A>G r.(=) p.(=) Unknown - VUS g.25384324A>G - POMC(NM_001035256.2):c.430T>C (p.F144L), POMC(NM_001035256.3):c.430T>C (p.F144L) - POMC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7147C>G r.(=) p.(=) Unknown - VUS g.25384356C>G g.25161487C>G POMC(NM_001035256.2):c.398G>C (p.R133P) - EFR3B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7151G>C r.(=) p.(=) Unknown - likely benign g.25384360G>C g.25161491G>C POMC(NM_001035256.2):c.394C>G (p.P132A), POMC(NM_001035256.3):c.394C>G (p.P132A) - POMC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7151G>C r.(=) p.(=) Unknown - likely benign g.25384360G>C - POMC(NM_001035256.2):c.394C>G (p.P132A), POMC(NM_001035256.3):c.394C>G (p.P132A) - POMC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7179C>G r.(=) p.(=) Unknown - likely benign g.25384388C>G g.25161519C>G POMC(NM_001035256.2):c.366G>C (p.E122D) - POMC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7199G>A r.(=) p.(=) Unknown - benign g.25384408G>A - POMC(NM_001035256.3):c.346C>T (p.L116=) - POMC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7248G>T r.(=) p.(=) Unknown - likely benign g.25384457G>T - POMC(NM_001035256.3):c.297C>A (p.G99=) - EFR3B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7250_*7267dup r.(=) p.(=) Unknown - VUS g.25384459_25384476dup g.25161590_25161607dup POMC(NM_001035256.3):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup), POMC(NM_001319204.2):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup) - EFR3B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7250_*7267dup r.(=) p.(=) Unknown - likely benign g.25384459_25384476dup - POMC(NM_001035256.3):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup), POMC(NM_001319204.2):c.280_297dupAGCAGCGGCAGCAGCGGC (p.S94_G99dup) - EFR3B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7259_*7267del r.(=) p.(=) Unknown - VUS g.25384468_25384476del - POMC(NM_001035256.3):c.289_297delAGCAGCGGC (p.S97_G99del) - EFR3B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7259_*7267dup r.(=) p.(=) Unknown - benign g.25384468_25384476dup g.25161599_25161607dup POMC(NM_001035256.2):c.289_297dupAGCAGCGGC (p.S97_G99dup) - EFR3B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7263G>A r.(=) p.(=) Unknown - benign g.25384472G>A g.25161603G>A POMC(NM_001035256.2):c.282C>T (p.S94=) - POMC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7267_*7268insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC r.(=) p.(=) Unknown - benign g.25384476_25384477insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC - POMC(NM_001035256.3):c.297_298ins72 (p.G99_A100ins24) - EFR3B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7284G>T r.(=) p.(=) Unknown - likely benign g.25384493G>T g.25161624G>T POMC(NM_001035256.3):c.261C>A (p.F87L) - EFR3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7290G>C r.(=) p.(=) Unknown - likely benign g.25384499G>C g.25161630G>C POMC(NM_001035256.2):c.255C>G (p.D85E) - POMC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*7294C>T r.(=) p.(=) Unknown - likely pathogenic g.25384503C>T - POMC(NM_001035256.3):c.251G>A (p.W84*) - EFR3B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7378G>T r.(=) p.(=) Unknown - likely benign g.25384587G>T g.25161718G>T POMC(NM_001035256.2):c.167C>A (p.A56D) - POMC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7384A>G r.(=) p.(=) Unknown - VUS g.25384593A>G - POMC(NM_001035256.3):c.161T>C (p.L54P) - EFR3B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7387T>C r.(=) p.(=) Unknown - benign g.25384596T>C g.25161727T>C POMC(NM_001035256.2):c.158A>G (p.D53G), POMC(NM_001035256.3):c.158A>G (p.D53G) - POMC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7387T>C r.(=) p.(=) Unknown - VUS g.25384596T>C g.25161727T>C POMC(NM_001035256.2):c.158A>G (p.D53G), POMC(NM_001035256.3):c.158A>G (p.D53G) - POMC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7387T>C r.(=) p.(=) Unknown - VUS g.25384596T>C - POMC(NM_001035256.2):c.158A>G (p.D53G), POMC(NM_001035256.3):c.158A>G (p.D53G) - POMC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7409A>G r.(=) p.(=) Unknown - VUS g.25384618A>G - POMC(NM_001319204.1):c.136T>C (p.C46R) - EFR3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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