RGD:408374742 Rat Genome Database

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Variant: RGD:408374742 -  Homo sapiens

RGD ID: 408374742
ClinVar ID: CV3502500
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  LOC127460827  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,700,268
GRCh38 8 144,474,885
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_003923.3:c.451G>C
NG_030003.1:g.6451G>C
NG_115596.1:g.686C>G
NC_000008.11:g.144474885C>G
More... 		04/29/2023 missense variant uncertain significance none provided

Gene Symbol:FOXH1
Accession:NM_003923
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLHRRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYWGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
.


Database
Acc Id
Source(s)
ClinVar RCV004726087 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 603621 CLINVAR