Full data view for gene APOO

Information The variants shown are described using the NM_024122.4 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.-2685C>T r.(?) p.(=) Unknown - likely benign g.23928504G>A g.23910387G>A CXorf58(NM_001169574.1):c.85G>A (p.(Ala29Thr)) - CXorf58_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2662T>C r.(?) p.(=) Unknown - likely benign g.23928481A>G - CXorf58(NM_001169574.1):c.62A>G (p.(Gln21Arg)) - CXorf58_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103G>A r.(?) p.(Val35Met) Unknown - likely benign g.23898976C>T - APOO(NM_024122.4):c.103G>A (p.(Val35Met)) - APOO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133G>T r.(?) p.(Val45Phe) Parent #1 - VUS g.23897136C>A g.23879019C>A - - APOO_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.237+194_237+200del r.(=) p.(=) Maternal (inferred) - VUS g.23896839_23896845del g.23878722_23878728del - - APOO_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.237+194_237+200del r.(=) p.(=) Maternal (inferred) - VUS g.23896839_23896845del g.23878722_23878728del - - APOO_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.237+196_237+202del r.(=) p.(=) Maternal (inferred) - VUS g.23896831_23896837del g.23878714_23878720del - - APOO_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.237+196_237+202del r.(=) p.(=) Maternal (inferred) - VUS g.23896831_23896837del g.23878714_23878720del - - APOO_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.350T>C r.350u>c p.Ile117Thr Maternal (confirmed) - likely pathogenic g.23886748A>G g.23868631A>G - - APOO_000011 - PubMed: Beninca 2021 - - Germline yes - - 0 skewed X-inactivation in symptomatic females DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? FamPatIV1 PubMed: Beninca 2021 4-generation family, 8 affected (3F, 5M) M - - - - 0 - - 1 Johan den Dunnen
?/. - c.546G>T r.(?) p.(Lys182Asn) Unknown - VUS g.23874434C>A g.23856317C>A APOO(NM_024122.4):c.546G>T (p.K182N) - APOO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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