RGD:11610940 Rat Genome Database

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Variant: RGD:11610940 -  Homo sapiens

RGD ID: 11610940
RS ID: rs188138100
ClinVar ID: CV304868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXP2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 114,333,730
GRCh38 7 114,693,675
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
NC_000007.14:g.114693675C>A
NC_000007.13:g.114333730C>A
NG_007491.3:g.612366C>A
NM_014491.3:c.*3749C>A
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance childhood <1 / 1 000 000 DEVELOPMENTAL VERBAL DYSPRAXIA; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA; Speech-language disorder 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FOXP2
Accession:NM_148900
Location:3UTRS;EXON

Gene Symbol:FOXP2
Accession:NM_001172766
Location:3UTRS;EXON

Gene Symbol:FOXP2
Accession:NM_148898
Location:3UTRS;EXON

Gene Symbol:FOXP2
Accession:NM_014491
Location:3UTRS;EXON

Gene Symbol:FOXP2
Accession:NR_033767
Location:EXON;NON-CODING

Gene Symbol:FOXP2
Accession:NR_033766
Location:EXON;NON-CODING

Gene Symbol:FOXP2
Accession:NM_001172767
Location:INTRON

Gene Symbol:FOXP2
Accession:NM_148899
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000388462 CLINVAR
dbSNP (RS) rs188138100 CLINVAR
MedGen C0750927 CLINVAR
NCBI Gene FOXP2 CLINVAR
OMIM 602081 CLINVAR
  605317 CLINVAR