Full data view for gene ZNF687

Information The variants shown are described using the NM_020832.1 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.2810C>G - r.(?) p.(Pro937Arg) Maternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 not in 1128 control chromosomes PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-Fam1PatV4 PubMed: Divisato 2016, Journal: Divisato 2016 5-generation family, 14-affecteds (9F, 5M) M no Italy Italian >35y 0 - - 14 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Maternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 not in 1128 control chromosomes PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-Fam1PatV18 PubMed: Divisato 2016, Journal: Divisato 2016 - M no Italy Italian >41y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Maternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 not in 1128 control chromosomes PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-Fam1PatV11 PubMed: Divisato 2016, Journal: Divisato 2016 - M no Italy Italian >41y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Maternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-Fam2PatII1 PubMed: Divisato 2016, Journal: Divisato 2016 2-generation family, 3 affecteds (2F, M) M no Italy Italian >45y 0 - - 3 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Maternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-Fam2PatII3 PubMed: Divisato 2016, Journal: Divisato 2016 - F no Italy Italian >26y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatGCT/PDB1 PubMed: Divisato 2016, Journal: Divisato 2016 - M - Italy Italian >33y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatGCT/PDB2 PubMed: Divisato 2016, Journal: Divisato 2016 - F - United States Italian - 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatGCT/PDB3 PubMed: Divisato 2016, Journal: Divisato 2016 - F - United States Italian - 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatGCT/PDB4 PubMed: Divisato 2016, Journal: Divisato 2016 - F - United States Italian - 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatGCT/PDB5 PubMed: Divisato 2016, Journal: Divisato 2016 - M - Italy Italian >38y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatGCT/PDB6 PubMed: Divisato 2016, Journal: Divisato 2016 - M - Italy Italian - 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatGCT/PDB7 PubMed: Divisato 2016, Journal: Divisato 2016 - M - Italy Italian >46y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatPDB1 PubMed: Divisato 2016, Journal: Divisato 2016 - M - Italy Italian >37y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatPDB2 PubMed: Divisato 2016, Journal: Divisato 2016 - M - Italy Italian >39y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatPDB3 PubMed: Divisato 2016, Journal: Divisato 2016 - F - Italy Italian >53y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatPDB4 PubMed: Divisato 2016, Journal: Divisato 2016 - F - Canada French-Canadian >61y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Parent #1 g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline - - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-PatPDB5 PubMed: Divisato 2016, Journal: Divisato 2016 - F - Canada French-Canadian >59y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Paternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - DNA IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-Fam3PatII1 PubMed: Divisato 2016, Journal: Divisato 2016 family, 3-affected siblings, Pat3II1 M - Italy Italian >50y 0 - - 3 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Paternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - DNA IHC, PCRq, SEQ-NG-I, SEQ-NG-R, Western - - PDB 26849110-Fam3PatII2 PubMed: Divisato 2016, Journal: Divisato 2016 PatII2 F - Italy Italian >59y 0 - - 1 Jamie Zeegers
+/. 6 c.2810C>G - r.(?) p.(Pro937Arg) Paternal (inferred) g.151262329C>G g.151289853C>G - - ZNF687_000001 - PubMed: Divisato 2016, Journal: Divisato 2016 - - Germline yes - - 0 - DNA SEQ - - PDB 26849110-Fam3PatII3 PubMed: Divisato 2016, Journal: Divisato 2016 PatII3 F - Italy Italian >43y 0 - - 1 Jamie Zeegers
Legend