RGD:8649073 Rat Genome Database

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Variant: RGD:8649073 -  Homo sapiens

RGD ID: 8649073
RS ID: rs121913172
ClinVar ID: CV116898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNGR1  LOC127407314  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 137,540,460
GRCh38 6 137,219,323
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000416.2:c.5C>T
LRG_66t1:c.5C>T
LRG_66:g.5108C>T
NG_007394.1:g.5108C>T
More... 		09/15/2022 missense|missense variant uncertain significance|not provided none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFNGR1
Accession:XM_011535793
Location:5UTRS;EXON

Gene Symbol:IFNGR1
Accession:NM_000416
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINI
SHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVD
YDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLHVWGVTTEKSKEVCITIFN
SSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEV
VCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSR
NCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYR
PTEDSKEFS*

Gene Symbol:IFNGR1
Accession:XM_047418726
Location:INTRON

Gene Symbol:IFNGR1
Accession:XM_011535794
Location:INTRON

Gene Symbol:IFNGR1
Accession:NM_001363526
Location:INTRON

Gene Symbol:IFNGR1
Accession:NM_001363527
Location:INTRON

Gene Symbol:IFNGR1
Accession:XM_006715470
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000097418 CLINVAR
  RCV002514552 CLINVAR
dbSNP (RS) rs121913172 CLINVAR
MedGen C0694566 CLINVAR
  C3661900 CLINVAR
NCBI Gene IFNGR1 CLINVAR
OMIM 107470 CLINVAR
SNOMED CT 240413000 CLINVAR