RGD:14975876 Rat Genome Database

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Variant: RGD:14975876 -  Homo sapiens

RGD ID: 14975876
RS ID: rs1056071555
ClinVar ID: CV615741
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 113,768,275
GRCh38 13 113,113,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_554:g.13171G>A
NG_009262.1:g.13171G>A
NC_000013.11:g.113113961G>A
NC_000013.10:g.113768275G>A
More... 		04/21/2022 splice donor variant pathogenic|likely pathogenic Congenital factor VII deficiency; F7 deficiency; Factor 7 deficiency; Hypoproconvertinemia; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:F7
Accession:NM_000131
Location:INTRON

Gene Symbol:F7
Accession:NM_001267554
Location:INTRON

Gene Symbol:F7
Accession:XM_047430125
Location:INTRON

Gene Symbol:F7
Accession:XM_011537475
Location:INTRON

Gene Symbol:F7
Accession:XM_006719963
Location:INTRON

Gene Symbol:F7
Accession:XM_011537476
Location:INTRON

Gene Symbol:F7
Accession:XM_011537474
Location:INTRON

Gene Symbol:F7
Accession:NM_019616
Location:INTRON

Gene Symbol:F7
Accession:NR_051961
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000852127 CLINVAR
  RCV001561212 CLINVAR
  RCV002245657 CLINVAR
  RCV002487577 CLINVAR
dbSNP (RS) rs1056071555 CLINVAR
MedGen C0015503 CLINVAR
  C0272320 CLINVAR
  C1832662 CLINVAR
  C3661900 CLINVAR
NCBI Gene F7 CLINVAR
OMIM 227500 CLINVAR
  608446 CLINVAR
  613878 CLINVAR
SNOMED CT 37193007 CLINVAR