rs760782228 Rat Genome Database

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Variant: rs760782228 -  Homo sapiens

RGD ID: 127332572
RS ID: rs760782228
ClinVar ID: CV1139256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  LOC127460827  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 145,699,993
GRCh38 8 144,474,610
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_003923.3:c.726C>T
NG_030003.1:g.6726C>T
NC_000008.11:g.144474610G>A
NC_000008.10:g.145699993G>A
More... 		08/04/2020 synonymous variant likely benign ARHINENCEPHALY; Holoprosencephaly; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1139256Humanholoprosencephaly  IAGP 8554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1139256HumanArrhinencephaly  IAGP 8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVarPMID:28492532
CV1139256HumanHoloprosencephaly  IAGP 8554872ClinVar Annotator: match by term: Single brain ventricleClinVarPMID:28492532
Gene Symbol:FOXH1
Accession:NM_003923
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPCSGSRLGPPEAESPSQPPKRRKKRYLRHDKPPYTYLAMIALVIQAAPSRRLKLAQIIRQVQAVFPFFREDYEGWKDS
IRHNLSSNRCFRKVPKDPAKPQAKGNFWAVDVSLIPAEALRLQNTALCRRWQNGGARGAFAKDLGPYVLHGRPYRPPSPP
PPPSEGFSIKSLLGGSGEGAPWPGLAPQSSPVPAGTGNSGEEAVPTPPLPSSERPLWPLCPLPGPTRVEGETVQGGAIGP
STLSPEPRAWPLHLLQGTAVPGGRSSGGHRASLWGQLPTSYLPIYTPNVVMPLAPPPTSCPQCPSTSPAYWGVAPETRGP
PGLLCDLDALFQGVPPNKSIYDVWVSHPRDLAAPGPGWLLSWCSL*
.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001489564 CLINVAR
dbSNP (RS) rs760782228 CLINVAR
MedGen C0079541 CLINVAR
NCBI Gene FOXH1 CLINVAR
OMIM 236100 CLINVAR
  603621 CLINVAR
SNOMED CT 30915001 CLINVAR