RGD:11638385 Rat Genome Database

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Variant: RGD:11638385 -  Homo sapiens

RGD ID: 11638385
RS ID: rs886044609
ClinVar ID: CV275223
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  LOC127460827  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,700,098
GRCh38 8 144,474,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_030003.1:g.6621A>C
NC_000008.11:g.144474715T>G
NC_000008.10:g.145700098T>G
NP_003914.1:p.Pro207=
More... 		09/19/2016 synonymous variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FOXH1
Accession:NM_003923
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLHGRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYWGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000302669 CLINVAR
dbSNP (RS) rs886044609 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 603621 CLINVAR