RGD:15126124 Rat Genome Database

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Variant: RGD:15126124 -  Homo sapiens

RGD ID: 15126124
RS ID: rs748058531
ClinVar ID: CV683982
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 145,701,086
GRCh38 8 144,475,703
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003923.3:c.54C>G
NG_030003.1:g.5633C>G
NC_000008.11:g.144475703G>C
NC_000008.10:g.145701086G>C
More... 		02/05/2019 synonymous variant likely benign 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: S to S (synonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLHGRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYWGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000862703 CLINVAR
dbSNP (RS) rs748058531 CLINVAR
MedGen C0079541 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 236100 CLINVAR
  603621 CLINVAR
SNOMED CT 30915001 CLINVAR