RGD:11644445 Rat Genome Database

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Variant: RGD:11644445 -  Homo sapiens

RGD ID: 11644445
RS ID: rs886049989
ClinVar ID: CV327496
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F7  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 113,773,616
GRCh38 13 113,119,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001267554.2:c.*294A>C
NM_000131.4:c.*294A>C
LRG_554:g.18512A>C
NG_009262.1:g.18512A>C
More... 		01/13/2018 3 prime utr variant uncertain significance all ages 1-9 / 1 000 000 F7 deficiency; Factor 7 deficiency; Hypoproconvertinemia
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:XM_006719963
Location:3UTRS;EXON

Gene Symbol:F7
Accession:NM_019616
Location:3UTRS;EXON

Gene Symbol:F7
Accession:XM_011537476
Location:3UTRS;EXON

Gene Symbol:F7
Accession:XM_011537475
Location:3UTRS;EXON

Gene Symbol:F7
Accession:NM_001267554
Location:3UTRS;EXON

Gene Symbol:F7
Accession:XM_011537474
Location:3UTRS;EXON

Gene Symbol:F7
Accession:XM_047430125
Location:3UTRS;EXON

Gene Symbol:F7
Accession:NM_000131
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260212 CLINVAR
dbSNP (RS) rs886049989 CLINVAR
MedGen C0015503 CLINVAR
NCBI Gene F7 CLINVAR
OMIM 227500 CLINVAR
  613878 CLINVAR
SNOMED CT 37193007 CLINVAR