Full data view for gene APC


Information The variants shown are described using the NM_000038.5 transcript reference sequence.

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

Exon     

Exon_old     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 6 - c.388A>G VUS r.(?) p.(Ser130Gly) - - substitution Parent #1 g.112103053A>G g.112767356A>G - - APC_001268 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 6 - c.388A>G VUS r.(?) p.(Ser130Gly) - - - Parent #1 g.112103053A>G g.112767356A>G - - APC_001268 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 2 Melissa DeRycke
-?/. - - c.388A>G likely benign r.(?) p.(Ser130Gly) - - - Unknown g.112103053A>G - APC(NM_000038.5):c.388A>G (p.(Ser130Gly)) - APC_001268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - - c.388A>G VUS r.(?) p.(Ser130Gly) - - - Unknown g.112103053A>G - APC(NM_000038.5):c.388A>G (p.(Ser130Gly)) - APC_001268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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