Full data view for gene DBT

Information The variants shown are described using the NM_001918.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Panel size     

Owner     
+/. 9 c.1196C>G - r.(?) p.(Ser399Cys) - ClinVar Unknown g.100206458G>C S399C Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar DBT_000003 rs1564433154 1/5 - DNA SEQ MSUD Ernie Zuraida Ali et al. (2018) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
?/. 9 c.1196C>G - r.(?) p.(Ser399Cys) - ClinVar Both (homozygous) g.100206458G>C S399C Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar DBT_000003 rs1564433154 6/10 - DNA PCR, SEQ MSUD Ernie Zuraida Ali et al. (2018) M Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
?/. 9 c.1196C>G - r.(?) p.(Ser399Cys) - ClinVar Unknown g.100206458G>C S399C Ernie Zuraida Ali et al. (2018),dbSNP , ClinVar DBT_000003 rs1564433154 2/10 - DNA PCR, SEQ MSUD Ernie Zuraida Ali et al. (2018) M Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
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