Full data view for gene CHST8

Information The variants shown are described using the NM_001127895.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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.-163-22531G>A r.(=) p.(=) Both (homozygous) - VUS g.34136142G>A g.33645236G>A - - CHST8_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-163-22512A>G r.(=) p.(=) Unknown - VUS g.34136161A>G g.33645255A>G - - CHST8_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.229C>T r.(?) p.(Arg77Trp) Unknown - likely benign g.34262922C>T g.33772017C>T CHST8(NM_022467.3):c.229C>T (p.R77W) - CHST8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.503G>C r.(?) p.(Arg168Pro) Unknown - VUS g.34263196G>C - CHST8(NM_022467.3):c.503G>C (p.R168P) - CHST8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.514_516dup r.(?) p.(Ser172dup) Unknown - likely benign g.34263207_34263209dup g.33772302_33772304dup CHST8(NM_022467.3):c.514_516dupAGC (p.S172dup) - CHST8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query