All variants in the SERPINC1 gene

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     

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     

Owner     
?/. - c.89T>A r.(?) p.(Val30Glu) - VUS g.173884010A>T g.173914872A>T - - SERPINC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.166C>T r.(?) p.(Arg56Cys) - 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 - Mohammed Faruq
+/. - c.377C>G r.(?) p.(Ala126Gly) - pathogenic g.173883722G>C g.173914584G>C - - SERPINC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 4 c.662G>C r.(?) p.(Trp221Ser) - likely pathogenic g.173879992C>G g.173910854C>G - - SERPINC1_000001 - - - - Germline yes - - 0 - Yulia Rogozhina
+/. - c.749C>T r.(?) p.(Thr250Ile) - pathogenic g.173879905G>A g.173910767G>A - - SERPINC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.981A>G r.(?) p.(Val327=) - 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 - VKGL-NL_Groningen
-/. - c.1011A>G r.(?) p.(Gln337=) - 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 - VKGL-NL_Groningen
+?/. - c.1246G>T r.(?) p.(Ala416Ser) - 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 - - - - - VKGL-NL_Rotterdam
+?/. - c.1358T>A r.(?) p.(Ile453Asn) - likely pathogenic g.173873064A>T g.173903926A>T - - SERPINC1_000004 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.1370G>C r.(?) p.(Arg457Thr) - pathogenic g.173873052C>G - - - SERPINC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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