Full data view for gene PEX14

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_004565.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.62A>T r.(?) p.(Asn21Ile) Unknown - VUS g.10555356A>T g.10495299A>T PEX14(NM_004565.2):c.62A>T (p.N21I) - PEX14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3i c.(84+1_85-1)_(169+1_170-1)del r.85_169del p.Ile29fs Both (homozygous) - pathogenic (recessive) g.(10555379_10596269)_(10596355_10659294)del g.(10495322_10536212)_(10536298_10599237)del 85-?_170+?del - PEX14_000002 41 kb deletion PubMed: Huybrechts 2008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD ? PubMed: Huybrechts 2008 - - yes Pakistan - - 0 - - 1 Nancy Braverman
-?/. - c.151G>A r.(?) p.(Ala51Thr) Unknown - likely benign g.10596336G>A g.10536279G>A PEX14(NM_004565.2):c.151G>A (p.A51T) - PEX14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Phe52=) Unknown - benign g.10596341C>T g.10536284C>T PEX14(NM_004565.2):c.156C>T (p.F52=) - PEX14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3i c.170-27840C>G r.(?) p.(=) Both (homozygous) - likely benign g.10631455C>G g.10571398C>G - - PEX14_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.208T>G r.(?) p.(Ser70Ala) Parent #1 - VUS g.10659333T>G g.10599276T>G - - PEX14_000009 12 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs77261230 Germline - 12/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 12 Mohammed Faruq
?/. - c.331G>A r.(?) p.(Ala111Thr) Unknown - VUS g.10678421G>A g.10618364G>A PEX14(NM_004565.2):c.331G>A (p.(Ala111Thr)) - PEX14_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.384+14A>T r.(=) p.(=) Unknown - benign g.10678488A>T g.10618431A>T PEX14(NM_004565.2):c.384+14A>T - PEX14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.400C>G r.(?) p.(Leu134Val) Unknown - likely benign g.10683091C>G g.10623034C>G PEX14(NM_004565.2):c.400C>G (p.L134V) - PEX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.451G>A r.(?) p.(Gly151Ser) Unknown - likely benign g.10683142G>A g.10623085G>A PEX14(NM_004565.2):c.451G>A (p.(Gly151Ser)) - PEX14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.553C>T r.553c>u p.Gln185* Both (homozygous) - pathogenic (recessive) g.10684462C>T - - - PEX14_000001 - PubMed: Shimozawa 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PatK-01 PubMed: Shimozawa 2004 - - - Japan - 00y00m10d 0 - - 1 Nancy Braverman
?/. - c.575C>G r.(?) p.(Ala192Gly) Unknown - VUS g.10684484C>G g.10624427C>G PEX14(NM_004565.2):c.575C>G (p.A192G) - PEX14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.585+1G>T r.spl p.? Parent #1 - pathogenic g.10684495G>T - - - PEX14_000017 no variant 2nd chromosome PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.768G>A r.(=) p.(=) Parent #1 - VUS g.10689678G>A g.10629621G>A - - PEX14_000015 conflicting interpretations of pathogenicity; 30 heterozygous; Clinindb (India) Faruq 2020, submtted - rs36083022 Germline - 30/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 30 Mohammed Faruq
?/. - c.768G>A r.(=) p.(=) Both (homozygous) - VUS g.10689678G>A g.10629621G>A - - PEX14_000015 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs36083022 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.795A>G r.(?) p.(Ser265=) Unknown - likely benign g.10689705A>G - PEX14(NM_004565.2):c.795A>G (p.S265=) - PEX14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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