Full data view for gene TRAF4

Information The variants shown are described using the NM_004295.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

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.-4904C>T r.(?) p.(=) Unknown - likely benign g.27066227C>T - NEK8(NM_178170.3):c.1417+8C>T - NEK8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3627G>A r.(?) p.(=) Unknown - VUS g.27067504G>A g.28740486G>A NEK8(NM_178170.3):c.1441G>A (p.E481K) - NEK8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3579G>C r.(?) p.(=) Unknown - VUS g.27067552G>C g.28740534G>C NEK8(NM_178170.3):c.1489G>C (p.A497P) - NEK8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3219C>T r.(?) p.(=) Unknown - benign g.27067912C>T - NEK8(NM_178170.3):c.1641C>T (p.A547=) - NEK8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3217T>G r.(?) p.(=) Unknown - likely benign g.27067914T>G - NEK8(NM_178170.3):c.1643T>G (p.L548R) - NEK8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3175C>G r.(?) p.(=) Unknown - VUS g.27067956C>G - NEK8(NM_178170.3):c.1685C>G (p.P562R) - NEK8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2973C>T r.(?) p.(=) Unknown - pathogenic g.27068158C>T g.28741140C>T NEK8(NM_178170.3):c.1795C>T (p.R599*) - NEK8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2973C>T r.(?) p.(=) Unknown - pathogenic g.27068158C>T g.28741140C>T NEK8(NM_178170.3):c.1795C>T (p.R599*) - NEK8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2973C>T r.(?) p.(=) Unknown - pathogenic g.27068158C>T - NEK8(NM_178170.3):c.1795C>T (p.R599*) - NEK8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-2964C>T r.(?) p.(=) Unknown - likely pathogenic g.27068167C>T g.28741149C>T - - NEK8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2876G>A r.(?) p.(=) Unknown - pathogenic g.27068255G>A g.28741237G>A NEK8(NM_178170.3):c.1891+1G>A - NEK8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2875T>C r.(?) p.(=) Unknown - pathogenic g.27068256T>C g.28741238T>C NEK8(NM_178170.3):c.1891+2T>C - NEK8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2695G>A r.(?) p.(=) Unknown - VUS g.27068436G>A - NEK8(NM_178170.3):c.1897G>A (p.E633K) - NEK8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2677A>C r.(?) p.(=) Unknown - VUS g.27068454A>C - NEK8(NM_178170.3):c.1915A>C (p.(Lys639Gln)) - NEK8_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2668C>T r.(?) p.(=) Unknown - pathogenic g.27068463C>T - NEK8(NM_178170.3):c.1924C>T (p.R642*) - NEK8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2654A>C r.(?) p.(=) Unknown - likely benign g.27068477A>C - NEK8(NM_178170.3):c.1938A>C (p.G646=) - NEK8_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2642G>C r.(?) p.(=) Unknown - VUS g.27068489G>C g.28741471G>C NEK8(NM_178170.3):c.1950G>C (p.E650D) - NEK8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2626C>T r.(?) p.(=) Unknown - VUS g.27068505C>T - NEK8(NM_178170.3):c.1966C>T (p.R656W) - NEK8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2600C>G r.(?) p.(=) Unknown - VUS g.27068531C>G g.28741513C>G NEK8(NM_178170.3):c.1992C>G (p.H664Q) - NEK8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2545C>T r.(?) p.(=) Unknown - VUS g.27068586C>T g.28741568C>T NEK8(NM_178170.2):c.2047C>T (p.(Arg683Ter)) - NEK8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2153G>A r.(?) p.(=) Unknown - benign g.27068978G>A g.28741960G>A NEK8(NM_178170.3):c.2052G>A (p.S684=) - NEK8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2133C>T r.(?) p.(=) Unknown - VUS g.27068998C>T - NEK8(NM_178170.3):c.2072C>T (p.P691L) - NEK8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>A r.(?) p.(Ser107Asn) Unknown - VUS g.27075054G>A - - - TRAF4_000001 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.866G>A r.(?) p.(Arg289Gln) Unknown - VUS g.27076048G>A - - - TRAF4_000002 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.959G>A r.(?) p.(Arg320Gln) Unknown - VUS g.27076141G>A - - - TRAF4_000003 - PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat42 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.