All transcript variants in gene PEX6

Information The variants shown are described using the NM_000287.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. - c.1646C>T VUS r.(?) p.(Ala549Val) g.42936070G>A - PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val)) - PEX6_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1646C>T benign r.(?) p.(Ala549Val) g.42936070G>A - PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val)) - PEX6_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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