RGD:11622514 Rat Genome Database

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Variant: RGD:11622514 -  Homo sapiens

RGD ID: 11622514
ClinVar ID: CV342544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 86,547,184
GRCh38 16 86,513,578
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
NG_016273.1:g.8052G>A
NC_000016.10:g.86513578G>A
NC_000016.9:g.86547184G>A
NM_001451.2:c.*493G>A
More... 		06/14/2016 3 prime utr variant likely benign infancy 1-9 / 100 000 Alveolar capillary dysplasia with misalignment of pulmonary veins; ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES; Persistent fetal circulation
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FOXF1
Accession:NM_001451
Location:3UTRS;EXON

Variant Samples