Full data view for gene IER3IP1

Information The variants shown are described using the NM_016097.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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.-11C>G r.(?) p.(=) Unknown - benign g.44702659G>C g.47176288G>C IER3IP1(NM_016097.4):c.-11C>G - IER3IP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.71A>C r.(?) p.(Glu24Ala) Unknown - VUS g.44702578T>G g.47176207T>G IER3IP1(NM_016097.4):c.71A>C (p.E24A) - IER3IP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128G>A r.(?) p.(Gly43Glu) Unknown - VUS g.44683872C>T g.47157501C>T IER3IP1(NM_016097.4):c.128G>A (p.G43E) - IER3IP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.147A>G r.(?) p.(Lys49=) Unknown - likely benign g.44683853T>C g.47157482T>C IER3IP1(NM_016097.4):c.147A>G (p.K49=) - IER3IP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.170G>A r.(?) p.(Arg57Gln) Unknown - likely benign g.44683830C>T g.47157459C>T IER3IP1(NM_016097.4):c.170G>A (p.R57Q) - IER3IP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.*58T>C r.(=) p.(=) Unknown - VUS g.44682490A>G g.47156119A>G - - IER3IP1_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150586939 Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_421:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
./. - c.*58T>C r.(=) p.(=) Unknown - VUS g.44682490A>G g.47156119A>G - - IER3IP1_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs150586939 Germline - 1/194 cases RE - 0 - DNA SEQ-NG - - epilepsy, Rolandic S_759:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - 1 Dheeraj Bobbili
Legend   How to query