Full data view for gene DYRK1B

Information The variants shown are described using the NM_004714.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.-5187C>T r.(?) p.(=) Unknown - VUS g.40329748G>A g.39839108G>A FBL(NM_001436.4):c.476C>T (p.P159L) - FBL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3801G>A r.(?) p.(=) Unknown - VUS g.40328362C>T g.39837722C>T FBL(NM_001436.4):c.671G>A (p.R224H) - FBL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Thr55=) Unknown - likely benign g.40321322G>A g.39830682G>A DYRK1B(NM_004714.2):c.165C>T (p.T55=) - DYRK1B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T r.(?) p.(Ala334=) Unknown - likely benign g.40318018G>A g.39827378G>A DYRK1B(NM_004714.2):c.1002C>T (p.A334=) - DYRK1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1319A>G r.(?) p.(Asn440Ser) Unknown - likely benign g.40317404T>C g.39826764T>C DYRK1B(NM_004714.2):c.1319A>G (p.N440S) - DYRK1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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