Full data view for gene SYN1

Information The variants shown are described using the NM_006950.3 transcript reference sequence.

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

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 9 c.1107C>T r.(?) p.(=) Parent #1 - likely benign g.47435581G>A g.47576182G>A I369I - SYN1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377229-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1107C>T r.(?) p.(Ile369=) Unknown - likely benign g.47435581G>A g.47576182G>A SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(Ile369=) Unknown - likely benign g.47435581G>A g.47576182G>A SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(Ile369=) Unknown - likely benign g.47435581G>A g.47576182G>A SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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