RGD:11602335 Rat Genome Database

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Variant: RGD:11602335 -  Homo sapiens

RGD ID: 11602335
RS ID: rs192907579
ClinVar ID: CV313422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXH1  KIFC2  LOC127460826  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,699,566
GRCh38 8 144,474,183
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.7153C>T
NC_000008.11:g.144474183G>A
NC_000008.10:g.145699566G>A
NM_003923.2:c.*55C>T
More... 		01/13/2018 3 prime utr variant benign|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:KIFC2
Accession:XM_047422406
Location:3UTRS;EXON

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

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

Gene Symbol:KIFC2
Accession:NM_001369769
Location:3UTRS;EXON

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

Gene Symbol:KIFC2
Accession:XM_011517362
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000289698 CLINVAR
dbSNP (RS) rs192907579 CLINVAR
MedGen C0079541 CLINVAR
NCBI Gene FOXH1 CLINVAR
  KIFC2 CLINVAR
OMIM 236100 CLINVAR
  603621 CLINVAR
  615216 CLINVAR
SNOMED CT 30915001 CLINVAR