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.

5 entries on 1 page. Showing entries 1 - 5.
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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.880A>G r.(?) p.(Thr294Ala) - benign g.2338015T>C g.2406576T>C PEX10(NM_153818.1):c.880A>G (p.T294A) - PEX10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.880A>G r.(?) p.(Thr294Ala) - likely benign g.2338015T>C g.2406576T>C PEX10(NM_153818.1):c.880A>G (p.T294A) - PEX10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 5 c.880A>G r.(?) p.(Thr294Ala) - benign g.2338015T>C - 877A>G (T294A) - PEX10_000014 - PubMed: Steinberg 2004 - - Germline - - - 0 - Nancy Braverman
?/. - c.880A>G r.(?) p.(Thr294Ala) - VUS g.2338015T>C - - - PEX10_000014 - - - - Germline - - - 0 - Johan den Dunnen
-/. - c.880A>G r.(?) p.(Thr294Ala) - benign g.2338015T>C g.2406576T>C - - PEX10_000014 820A>G PubMed: Yik 2009 - - Germline - 0.03 - 0 - Johan den Dunnen
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