RGD:28873828 Rat Genome Database

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Variant: RGD:28873828 -  Homo sapiens

RGD ID: 28873828
RS ID: rs372121961
ClinVar ID: CV899127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  LOC127460827  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 145,699,907
GRCh38 8 144,474,524
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003923.2:c.812C>T
NP_003914.1:p.Ala271Val
NM_003923.3:c.812C>T
NC_000008.10:g.145699907G>A
More... 		10/07/2021 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: A to V (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLHGRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRVSLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYWGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001165082 CLINVAR
dbSNP (RS) rs372121961 CLINVAR
MedGen C0079541 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 236100 CLINVAR
  603621 CLINVAR
SNOMED CT 30915001 CLINVAR