Variant #0000504313 (NC_000001.10:g.173873176C>A, SERPINC1(NM_000488.3):c.1246G>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.173873176C>A
DNA change (hg38) g.173904038C>A
Published as SERPINC1(NM_000488.3):c.1246G>T (p.A416S)
ISCN -
DB-ID SERPINC1_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00086 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERPINC1 NM_000488.3 +?/. - c.1246G>T r.(?) p.(Ala416Ser)