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     
+?/+? 1 c.661G>T Likely pathogenic r.(?) p.(Glu221*) g.42946228C>A - - - PEX6_000213 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
+?/. - c.661G>T - - - g.42946228C>A g.42978490C>A - - PEX6_000213 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs786205580 Germline - 10/2785 individuals - 0 - Mohammed Faruq
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