RGD:34891958 Rat Genome Database

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Variant: RGD:34891958 -  Homo sapiens

RGD ID: 34891958
RS ID: rs1312980498
ClinVar ID: CV857669
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,700,614
GRCh38 8 144,475,231
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.145700614A>G
NM_003923.2:c.205T>C
NP_003914.1:p.Phe69Leu
NC_000008.11:g.144475231A>G
More... 		04/23/2020 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FOXH1
Accession:NM_003923
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPLFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLHGRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYWGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:32003456  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001175387 CLINVAR
dbSNP (RS) rs1312980498 CLINVAR
MedGen C1853238 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 603621 CLINVAR