Full data view for gene SERPINC1

Information The variants shown are described using the NM_000488.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.89T>A r.(?) p.(Val30Glu) Unknown - VUS g.173884010A>T g.173914872A>T - - SERPINC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.166C>T r.(?) p.(Arg56Cys) Parent #1 - likely pathogenic g.173883933G>A g.173914795G>A - - SERPINC1_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28929469 Germline - 1/2795 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.377C>G r.(?) p.(Ala126Gly) Unknown - pathogenic g.173883722G>C g.173914584G>C - - SERPINC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.662G>C r.(?) p.(Trp221Ser) Paternal (confirmed) - likely pathogenic g.173879992C>G g.173910854C>G - - SERPINC1_000001 - - - - Germline yes - - 0 - DNA SEQ leucocytes - AT3D - - - F no (Russian Federation) white - 0 - - 1 Yulia Rogozhina
+/. - c.749C>T r.(?) p.(Thr250Ile) Unknown - pathogenic g.173879905G>A g.173910767G>A - - SERPINC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.981A>G r.(?) p.(Val327=) Unknown - benign g.173878862T>C g.173909724T>C SERPINC1(NM_000488.3):c.981A>G (p.V327=) - SERPINC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1011A>G r.(?) p.(Gln337=) Unknown - benign g.173878832T>C g.173909694T>C SERPINC1(NM_000488.3):c.1011A>G (p.Q337=) - SERPINC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1246G>T r.(?) p.(Ala416Ser) Unknown - likely pathogenic g.173873176C>A g.173904038C>A SERPINC1(NM_000488.3):c.1246G>T (p.A416S) - SERPINC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1358T>A r.(?) p.(Ile453Asn) Unknown - likely pathogenic g.173873064A>T g.173903926A>T - - SERPINC1_000004 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - AT3D - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.1370G>C r.(?) p.(Arg457Thr) Unknown - pathogenic g.173873052C>G - - - SERPINC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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