Full data view for gene MAP3K7

Information The variants shown are described using the NM_145331.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat01 PubMed: Wade 2016, Journal: Wade 2016 - M - Italy Italian - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat02 PubMed: Wade 2016, Journal: Wade 2016 - M - United Kingdom (Great Britain) English - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat03 PubMed: Wade 2016, Journal: Wade 2016 - M - Austria Austrian - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat04 PubMed: Wade 2016, Journal: Wade 2016 - M - Australia European - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat05 PubMed: Wade 2016, Journal: Wade 2016 - M - Scotland Scottish - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat06 PubMed: Wade 2016, Journal: Wade 2016 - M - Switzerland Swiss - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - - - - Germline - - - - - DNA, RNA arrayCGH, PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat08 PubMed: Wade 2016, Journal: Wade 2016 - M - Korea Korean - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat09 PubMed: Wade 2016, Journal: Wade 2016 - F - - Hispanic - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - - - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat10 PubMed: Wade 2016, Journal: Wade 2016 - F - Turkey Turkish - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat11 PubMed: Wade 2016, Journal: Wade 2016 - F - Mexico Mexican - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat12 PubMed: Wade 2016, Journal: Wade 2016 - F - Germany German - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat13 PubMed: Wade 2016, Journal: Wade 2016 Inheritance unknown. F - United Kingdom (Great Britain) English - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat14 PubMed: Wade 2016, Journal: Wade 2016 - F - Germany German - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - Germline - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat15 PubMed: Wade 2016, Journal: Wade 2016 - F - Netherlands Dutch - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Parent #1 - pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - DNA, RNA PCRq, SEQ, SEQ-NG-I, Western - - FMD1 27426733-Pat16 PubMed: Wade 2016, Journal: Wade 2016 - F - Australia European - - - - 1 Jamie Zeegers
+/. - c.1535C>T r.(?) p.(Pro512Leu) Unknown - pathogenic g.91228271G>A g.90518552G>A MAP3K7(NM_145331.3):c.1535C>T (p.P512L) - MAP3K7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.1535C>T r.(?) p.(Pro512Leu) Unknown - likely pathogenic g.91228271G>A g.90518552G>A - - MAP3K7_000006 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat34 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1535C>T r.(?) p.(Pro512Leu) Unknown - pathogenic g.91228271G>A - MAP3K7(NM_145331.3):c.1535C>T (p.P512L) - MAP3K7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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