Full data view for gene EXOSC3

Information The variants shown are described using the NM_016042.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European 18y - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European 16y - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - American, European - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Salman 2003 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F no - Canadian, Cuban 3y4m - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Salman 2003 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F yes - German, Turkish - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Salman 2003 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M yes - German, Turkish - - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Parent #2 - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Ryan 2000 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - New Caledonian >3m - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Parent #2 - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - F no - Australian 2y2m - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M yes - Australian, Turkish 3y - - - 1 Johan den Dunnen
+?/. 2 c.395A>C r.(?) p.(Asp132Ala) Parent #2 - likely pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes PubMed: Wan 2012, PubMed: Ryan 2000 - - Germline yes - - - - DNA SEQ-NG-I - - PCH1B - PubMed: Wan 2012 - M no - Australian 11m - - - 1 Johan den Dunnen
+/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A) - EXOSC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A) - EXOSC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM220 - - M - Italy - 02y - - - 1 Enza Maria Valente
+?/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM422 - - M - Italy - 00y02m - - - 1 Enza Maria Valente
+?/. - c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH BR2 - - F - - - 09y - - - 1 Enza Maria Valente
+?/. - c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G g.6100A>C - EXOSC3_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - PCH CCM565 - - F - Spain - 04y - - - 1 Enza Maria Valente
+/. 2 c.395A>C r.(?) p.(Asp132Ala) Both (homozygous) - pathogenic g.37783990T>G g.37783993T>G - - EXOSC3_000001 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1614 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.395A>C r.(?) p.(Asp132Ala) Unknown - pathogenic g.37783990T>G - EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A) - EXOSC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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