RGD:11644812 Rat Genome Database

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Variant: RGD:11644812 -  Homo sapiens

RGD ID: 11644812
RS ID: rs886062753
ClinVar ID: CV308375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  LOC127460827  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,700,277
GRCh38 8 144,474,894
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.6442G>A
NC_000008.11:g.144474894C>T
NC_000008.10:g.145700277C>T
NP_003914.1:p.Val148Met
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: V to M (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYMLHGRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYWGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000261811 CLINVAR
dbSNP (RS) rs886062753 CLINVAR
MedGen C0079541 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 236100 CLINVAR
  603621 CLINVAR
SNOMED CT 30915001 CLINVAR