Full data view for gene CREB3L3

Information The variants shown are described using the NM_032607.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.1087T>G r.(?) p.(Leu363Val) Unknown ACMG VUS g.4171667T>G g.4171670T>G - - CREB3L3_000001 - PubMed: Isbister 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - CM BAF1 PubMed: Isbister 2020 - - - Australia - - 0 - - 1 Johan den Dunnen
?/. - c.*3727C>T r.(=) p.(=) Unknown - VUS g.4175693C>T g.4175696C>T SIRT6(NM_016539.3):c.598G>A (p.A200T) - SIRT6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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