Unique variants in the POLDIP3 gene

Information The variants shown are described using the NM_032311.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 2 - c.-4932G>A r.(?) p.(=) - likely benign g.43015795C>T g.42619789C>T CYB5R3(NM_000398.6):c.890G>A (p.(Arg297His)), CYB5R3(NM_000398.7):c.890G>A (p.R297H) - ATP5L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/., ?/. 2 - c.-4924G>A r.(?) p.(=) - likely benign, VUS g.43015787C>T g.42619781C>T CYB5R3(NM_000398.6):c.898G>A (p.(Val300Ile)), CYB5R3(NM_000398.7):c.898G>A (p.V300I) - CYB5R3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
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