Full data view for gene POLG

Information The variants shown are described using the NM_002693.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.264C>T r.(?) p.(Phe88=) Unknown - likely benign g.89876722G>A g.89333491G>A POLG(NM_002693.2):c.264C>T (p.F88=), POLG(NM_002693.3):c.264C>T (p.F88=) - POLG_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>T r.(?) p.(Phe88=) Unknown - likely benign g.89876722G>A g.89333491G>A POLG(NM_002693.2):c.264C>T (p.F88=), POLG(NM_002693.3):c.264C>T (p.F88=) - POLG_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.264C>T r.(?) p.(=) Parent #1 - VUS g.89876722G>A - - - POLG_000092 - PubMed: Stalke 2018 - - Germline - - - - - DNA SEQ - - MTDPS Fam32PatLP149 PubMed: Stalke 2018 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.264C>T r.(?) p.(Phe88=) Unknown - likely benign g.89876722G>A - POLG(NM_002693.2):c.264C>T (p.F88=), POLG(NM_002693.3):c.264C>T (p.F88=) - POLG_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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