All variants in the PEX10 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_153818.1 transcript reference sequence.

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

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     
+?/. - c.2T>C r.(?) p.(Met1?) - likely pathogenic g.2343940A>G g.2412501A>G PEX10(NM_153818.1):c.2T>C (p.M1?) - PEX10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.2T>C r.2u>c p.0? - pathogenic (recessive) g.2343940A>G - - - PEX10_000024 - PubMed: Regal 2010 - - Germline - - - 0 - Nancy Braverman
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