RGD:11611454 Rat Genome Database

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Variant: RGD:11611454 -  Homo sapiens

RGD ID: 11611454
RS ID: rs140090667
ClinVar ID: CV313551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  LOC127460827  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,699,786
GRCh38 8 144,474,403
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.6933G>C
NC_000008.11:g.144474403C>G
NC_000008.10:g.145699786C>G
NP_003914.1:p.Trp311Cys
More... 		06/14/2016 missense variant uncertain significance ARHINENCEPHALY; Holoprosencephaly; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL
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: W to C (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLHGRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYCGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000394977 CLINVAR
dbSNP (RS) rs140090667 CLINVAR
MedGen C0079541 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 236100 CLINVAR
  603621 CLINVAR
SNOMED CT 30915001 CLINVAR