Full data view for gene BCR

Information The variants shown are described using the NM_004327.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 13 c.? r.2684_*2514delins[cgggagcagcagaagaa;NM_004972.2:r.1336_*1392] p.Ile895_Val1271delins[ThrGlyAlaAlaGluGlu;NP_004963.1:p.Val446_Gly1132] Unknown - pathogenic p.? - - t(9;22)(p24;q11) BCR_000017 fusion transcript from reciprocal translocation implying a double break on chromosome 9 PubMed: Cirmena 2008 - - Somatic - - - 0 - DNA, RNA FISH, RT-PCR - - AML 18503828-Pat PubMed: 18503828 2008 - F - Italy - - 0 - - 1 Johan den Dunnen
?/. - c.38C>T r.(?) p.(Ala13Val) Unknown - VUS g.23523185C>T - BCR(NM_004327.3):c.38C>T (p.A13V) - BCR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483C>A r.(?) p.(Ile161=) Unknown - benign g.23523630C>A g.23181443C>A BCR(NM_004327.4):c.483C>A (p.I161=) - BCR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1279+17062C>T r.(=) p.(=) Unknown - benign g.23541488C>T g.23199301C>T BCR(NM_004327.4):c.1279+17062C>T - BCR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1280-10854A>G r.(=) p.(=) Unknown - benign g.23585132A>G g.23242945A>G BCR(NM_004327.4):c.1280-10854A>G - BCR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2387A>G r.(?) p.(Asn796Ser) Unknown - benign g.23627369A>G g.23285182A>G BCR(NM_004327.4):c.2387A>G (p.N796S) - BCR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2596A>C r.(?) p.(Lys866Gln) Unknown - VUS g.23630353A>C - BCR(NM_004327.3):c.2596A>C (p.K866Q) - BCR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2708-13A>G r.(=) p.(=) Unknown - benign g.23632513A>G g.23290326A>G BCR(NM_004327.4):c.2708-13A>G - BCR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2845G>A r.(?) p.(Val949Ile) Parent #1 - benign g.23634790G>A g.23292603G>A - - BCR_000018 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229038 Germline - 21/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 21 Mohammed Faruq
-/. - c.2881-11T>C r.(=) p.(=) Unknown - benign g.23637200T>C g.23295013T>C BCR(NM_004327.4):c.2881-11T>C - BCR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3073-8T>C r.(=) p.(=) Unknown - benign g.23652503T>C g.23310316T>C BCR(NM_004327.4):c.3073-8T>C - BCR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3270C>T r.(?) p.(Arg1090=) Unknown - likely benign g.23653971C>T - BCR(NM_004327.3):c.3270C>T (p.R1090=) - BCR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3275_3278dup r.(?) p.(Val1094ArgfsTer17) Unknown - VUS g.23653976_23653979dup g.23311789_23311792dup BCR(NM_004327.3):c.3274_3275insCCGG (p.(Val1094ArgfsTer17)), BCR(NM_004327.3):c.3275_3278dupCCGG (p.V1094Rfs*17) - BCR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3275_3278dup r.(?) p.(Val1094ArgfsTer17) Unknown - VUS g.23653976_23653979dup g.23311789_23311792dup BCR(NM_004327.3):c.3274_3275insCCGG (p.(Val1094ArgfsTer17)), BCR(NM_004327.3):c.3275_3278dupCCGG (p.V1094Rfs*17) - BCR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3287C>G r.(?) p.(Thr1096Arg) Unknown - VUS g.23653988C>G g.23311801C>G BCR(NM_004327.3):c.3287C>G (p.(Thr1096Arg)) - BCR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3316G>A r.(?) p.(Asp1106Asn) Unknown - VUS g.23654017G>A g.23311830G>A BCR(NM_004327.3):c.3316G>A (p.(Asp1106Asn)) - BCR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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