RGD:14713030 Rat Genome Database

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Variant: RGD:14713030 -  Homo sapiens

RGD ID: 14713030
RS ID: rs17001989
ClinVar ID: CV669843
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FHL1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 135,288,284
GRCh38 X 136,206,125
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369326.1:c.-26-282A>G
NM_001159699.2:c.23-282A>G
NM_001369327.2:c.-26-282A>G
NG_015895.1:g.63726A>G
More... 		06/18/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FHL1
Accession:NM_001369328
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001159700
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001369327
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001159702
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:XM_024452354
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001369329
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001159704
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:XM_006724746
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001159703
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001167819
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:XM_047441925
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001449
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001369330
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:XM_047441927
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001369326
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001369331
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:XM_047441926
Location:5UTRS;INTRON

Gene Symbol:FHL1
Accession:NM_001330659
Location:INTRON

Gene Symbol:FHL1
Accession:NM_001159701
Location:INTRON

Gene Symbol:FHL1
Accession:XM_006724743
Location:INTRON

Gene Symbol:FHL1
Accession:NM_001159699
Location:INTRON

Gene Symbol:FHL1
Accession:NR_027621
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000828602 CLINVAR
dbSNP (RS) rs17001989 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FHL1 CLINVAR
OMIM 300163 CLINVAR