All variants in the PEX16 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.307G>A r.(?) p.(Val103Met) - benign g.45937306C>T g.45915755C>T PEX16(NM_004813.3):c.307G>A (p.V103M) - PEX16_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.307G>A r.(?) p.(Val103Met) - benign g.45937306C>T g.45915755C>T - - PEX16_000008 118 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11553094 Germline - 118/2795 individuals - 0 - Mohammed Faruq
-/. - c.307G>A r.(?) p.(Val103Met) - benign g.45937306C>T g.45915755C>T - - PEX16_000008 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11553094 Germline - 2/2795 individuals - 0 - Mohammed Faruq
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