Full data view for gene YBEY

Information The variants shown are described using the NM_058181.1 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

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.-2991T>C r.(?) p.(=) Unknown - likely benign g.47703705T>C g.46283791T>C MCM3AP(NM_003906.4):c.1267A>G (p.T423A) - MCM3AP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2962G>A r.(?) p.(=) Unknown - likely benign g.47703734G>A g.46283820G>A MCM3AP(NM_003906.3):c.1238C>T (p.(Pro413Leu)) - MCM3AP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2493C>A r.(?) p.(=) Unknown - likely benign g.47704203C>A g.46284289C>A MCM3AP(NM_003906.4):c.998G>T (p.R333L) - MCM3AP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2001C>T r.(?) p.(=) Unknown - likely benign g.47704695C>T g.46284781C>T MCM3AP(NM_003906.4):c.506G>A (p.S169N) - MCM3AP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1743G>T r.(?) p.(=) Unknown - likely benign g.47704953G>T g.46285039G>T MCM3AP(NM_003906.4):c.248C>A (p.P83H) - C21orf58_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1632G>A r.(?) p.(=) Unknown - likely benign g.47705064G>A g.46285150G>A MCM3AP(NM_003906.4):c.137C>T (p.S46F) - MCM3AP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1627G>A r.(?) p.(=) Unknown - likely benign g.47705069G>A g.46285155G>A MCM3AP(NM_003906.4):c.132C>T (p.T44=) - MCM3AP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-1459T>C r.(?) p.(=) Unknown - benign g.47705237T>C g.46285323T>C - - MCM3AP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 2 c.51_52del r.(?) p.(Pro18Thrfs*4) Unknown - likely pathogenic g.47706878_47706879del g.46286964_46286965del - - YBEY_000001 variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me - - - Germline - 1/192 - 1 - DNA SEQ leukocyte - CRC - - performed exome/genome analysis, detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - 1 Sukanya Horpaopan
Legend   How to query