Full data view for gene PEX6

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000287.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.802_815del r.619_882del p.Val76_Gln294del Parent #2 - pathogenic (recessive) g.42946074_42946087del - 800-813del - PEX6_000002 - PubMed: Matsumoto 2001, MORL Deafness Variation Database - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD6-01 PubMed: Matsumoto 2001 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 1 c.802_815del r.(?) p.(Asp268Cysfs*8) Parent #1 - pathogenic (recessive) g.42946074_42946087del - - - PEX6_000002 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 1 c.802_815del r.802_815del p.Asp268Cysfs*8 Parent #1 - pathogenic (recessive) g.42946074_42946087del - - - PEX6_000002 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
+/. 1 c.802_815del r.802_815del p.Asp268Cysfs*8 Both (homozygous) - pathogenic (recessive) g.42946074_42946087del - - - PEX6_000002 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - - - - - United States - - 0 - - 1 Nancy Braverman
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