RGD:38596444 Rat Genome Database

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Variant: RGD:38596444 -  Homo sapiens

RGD ID: 38596444
RS ID: rs1948222554
ClinVar ID: CV964037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOLR1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 71,906,798
GRCh38 11 72,195,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016724.3:c.493+7G>T
NM_016725.3:c.493+7G>T
NM_000802.3:c.493+7G>T
NM_016729.3:c.493+7G>T
More... 		01/01/2019 intron variant likely benign Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FOLR1
Accession:NM_000802
Location:INTRON

Gene Symbol:FOLR1
Accession:NM_016725
Location:INTRON

Gene Symbol:FOLR1
Accession:NM_016729
Location:INTRON

Gene Symbol:FOLR1
Accession:NM_016724
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001251756 CLINVAR
dbSNP (RS) rs1948222554 CLINVAR
MedGen C3714756 CLINVAR
NCBI Gene FOLR1 CLINVAR
OMIM 136430 CLINVAR
SNOMED CT 228156007 CLINVAR