rs1825050087 Rat Genome Database

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Variant: rs1825050087 -  Homo sapiens

RGD ID: 28910494
RS ID: rs1825050087
ClinVar ID: CV899121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  KIFC2  LOC127460826  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 145,699,267
GRCh38 8 144,473,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_003923.3:c.*354C>T
NM_145754.5:c.*434G>A
NM_001369769.2:c.*495G>A
NG_030003.1:g.7452C>T
More... 		01/12/2018 3 prime utr variant uncertain significance ARHINENCEPHALY; Holoprosencephaly; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV899121Humanholoprosencephaly  IAGP 8554872ClinVar Annotator: match by term: Holoprosencephaly sequenceClinVar 

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV899121HumanArrhinencephaly  IAGP 8554872ClinVar Annotator: match by term: ARHINENCEPHALYClinVar 
CV899121HumanHoloprosencephaly  IAGP 8554872ClinVar Annotator: match by term: Single brain ventricleClinVar 
Gene Symbol:KIFC2
Accession:NM_001369769
Location:3UTRS;EXON

Gene Symbol:KIFC2
Accession:XM_047422406
Location:3UTRS;EXON

Gene Symbol:FOXH1
Accession:NM_003923
Location:3UTRS;EXON

Gene Symbol:KIFC2
Accession:XM_047422405
Location:3UTRS;EXON

Gene Symbol:KIFC2
Accession:NM_145754
Location:3UTRS;EXON

Gene Symbol:KIFC2
Accession:XM_011517362
Location:INTRON

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1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV001161471 CLINVAR
dbSNP (RS) rs1825050087 CLINVAR
MedGen C0079541 CLINVAR
NCBI Gene FOXH1 CLINVAR
  KIFC2 CLINVAR
OMIM 236100 CLINVAR
  603621 CLINVAR
  615216 CLINVAR
SNOMED CT 30915001 CLINVAR
1 to 9 of 9 rows