Full data view for gene JAGN1

Information The variants shown are described using the NM_032492.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.1A>G r.(?) p.(Met1?) Unknown - VUS g.9932407A>G g.9890723A>G JAGN1(NM_032492.4):c.1A>G (p.M1?) - JAGN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.9932407A>G g.9890723A>G JAGN1(NM_032492.4):c.1A>G (p.M1?) - JAGN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.9932407A>G g.9890723A>G JAGN1(NM_032492.4):c.1A>G (p.M1?) - JAGN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64C>T r.(?) p.(Arg22Cys) Unknown - VUS g.9932470C>T g.9890786C>T JAGN1(NM_032492.4):c.64C>T (p.R22C) - JAGN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189G>A r.(?) p.(Leu63=) Unknown - likely benign g.9934698G>A g.9893014G>A JAGN1(NM_032492.4):c.189G>A (p.L63=) - JAGN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(Pro71=) Unknown - likely benign g.9934722C>T g.9893038C>T JAGN1(NM_032492.4):c.213C>T (p.P71=) - JAGN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.244A>G r.(?) p.(Ile82Val) Parent #1 - benign g.9934753A>G g.9893069A>G - - JAGN1_000008 36 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35365817 Germline - 36/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 36 Mohammed Faruq
-?/. - c.250C>G r.(?) p.(Pro84Ala) Unknown - likely benign g.9934759C>G g.9893075C>G JAGN1(NM_032492.3):c.250C>G (p.(Pro84Ala)) - JAGN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270C>T r.(?) p.(Leu90=) Unknown - likely benign g.9934779C>T g.9893095C>T JAGN1(NM_032492.4):c.270C>T (p.L90=) - JAGN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - VUS g.9934898A>G g.9893214A>G JAGN1(NM_032492.4):c.389A>G (p.Y130C) - JAGN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.403G>A r.(?) p.(Ala135Thr) Parent #1 - benign g.9934912G>A g.9893228G>A - - JAGN1_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61746084 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.432C>T r.(?) p.(Ala144=) Unknown - likely benign g.9934941C>T g.9893257C>T JAGN1(NM_032492.4):c.432C>T (p.A144=) - JAGN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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