Full data view for gene AWAT1

Information The variants shown are described using the NM_001013579.2 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.76+414A>G r.(=) p.(=) Maternal (inferred) - VUS g.69455035A>G g.70235185A>G - - AWAT1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.76+414A>G r.(=) p.(=) Maternal (inferred) - VUS g.69455035A>G g.70235185A>G - - AWAT1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.461-3T>C r.spl? p.? Unknown - likely benign g.69458059T>C - AWAT1(NM_001013579.2):c.461-3T>C - AWAT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.541G>C r.(?) p.(Gly181Arg) Unknown - VUS g.69458142G>C g.70238292G>C AWAT1(NM_001013579.2):c.541G>C (p.G181R) - AWAT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589C>T r.(?) p.(Leu197Phe) Unknown - VUS g.69458190C>T g.70238340C>T AWAT1(NM_001013579.2):c.589C>T (p.(Leu197Phe)) - AWAT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.734G>A r.(?) p.(Arg245His) Unknown - likely benign g.69459686G>A g.70239836G>A AWAT1(NM_001013579.2):c.734G>A (p.R245H) - AWAT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833-41C>T r.(=) p.(=) Maternal (inferred) - VUS g.69459945C>T g.70240095C>T - - AWAT1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.833-41C>T r.(=) p.(=) Maternal (inferred) - VUS g.69459945C>T g.70240095C>T - - AWAT1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.898G>A r.(?) p.(Ala300Thr) Unknown - likely benign g.69460051G>A g.70240201G>A AWAT1(NM_001013579.2):c.898G>A (p.(Ala300Thr)) - AWAT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - likely benign g.69460084G>A g.70240234G>A AWAT1(NM_001013579.2):c.931G>A (p.D311N) - AWAT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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