Full data view for gene SERPINE1

Information The variants shown are described using the NM_000602.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.43G>A r.(?) p.(Ala15Thr) Unknown - benign g.100771717G>A g.101128436G>A SERPINE1(NM_000602.5):c.43G>A (p.A15T) - SERPINE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43G>A r.(?) p.(Ala15Thr) Unknown - benign g.100771717G>A g.101128436G>A SERPINE1(NM_000602.5):c.43G>A (p.A15T) - SERPINE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49G>A r.(?) p.(Val17Ile) Parent #1 - likely benign g.100771723G>A g.101128442G>A - - SERPINE1_000003 84 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6090 Germline - 84/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 84 Mohammed Faruq
-?/. - c.49G>A r.(?) p.(Val17Ile) Both (homozygous) - likely benign g.100771723G>A g.101128442G>A - - SERPINE1_000003 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6090 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.116G>T r.(?) p.(Gly39Val) Unknown - VUS g.100771790G>T - SERPINE1(NM_000602.5):c.116G>T (p.(Gly39Val)) - SERPINE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123G>A r.(?) p.(Arg41=) Unknown - likely benign g.100771797G>A - SERPINE1(NM_000602.4):c.123G>A (p.R41=) - SERPINE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272A>T r.(?) p.(Asp91Val) Unknown - VUS g.100773702A>T - SERPINE1(NM_000602.4):c.272A>T (p.D91V) - SERPINE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339G>C r.(?) p.(Glu113Asp) Unknown - likely benign g.100773769G>C g.101130488G>C SERPINE1(NM_000602.4):c.339G>C (p.E113D) - SERPINE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*690T>C r.(=) p.(=) Parent #1 - likely benign g.100781413T>C g.101138132T>C - - SERPINE1_000004 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7241 Germline - 19/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
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