All transcript variants in gene PEX6

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

3 entries on 1 page. Showing entries 1 - 3.
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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.1718C>T VUS r.(?) p.(Thr573Ile) g.42935272G>A - PEX6(NM_000287.3):c.1718C>T (p.T573I) - PEX6_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1718C>T VUS r.(?) p.(Thr573Ile) g.42935272G>A - PEX6(NM_000287.3):c.1718C>T (p.T573I) - PEX6_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/+? 8 c.1718C>T Likely pathogenic r.(?) p.(Thr573Ile) g.42935272G>A - - - PEX6_000135 - MORL Deafness Variation Database, PubMed: Grunert 2014 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
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