RGD:28893247 Rat Genome Database

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Variant: RGD:28893247 -  Homo sapiens

RGD ID: 28893247
RS ID: rs1779346306
ClinVar ID: CV895471
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNGR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 137,524,726
GRCh38 6 137,203,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_66:g.20842G>A
NG_007394.1:g.20842G>A
NM_000416.2:c.643G>A
LRG_66t1:c.643G>A
More...
01/13/2018 missense variant uncertain significance IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE; IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFNGR1
Accession:NM_000416
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINI
SHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVD
YDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCISAEGVLHVWGVTTEKSKEVCITIFN
SSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEV
VCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSR
NCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYR
PTEDSKEFS*

Gene Symbol:IFNGR1
Accession:XM_006715470
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKSPENSLLQFQFKYGVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDH
VGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIR
VYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCISAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIP
VVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPAT
VPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRN
GFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS*

Gene Symbol:IFNGR1
Accession:XM_011535793
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKSPENSLLQFQFKYGVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDH
VGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIR
VYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCISAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIP
VVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPAT
VPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRN
GFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS*

Gene Symbol:IFNGR1
Accession:XM_011535794
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKSPENSLLQFQFKYGVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDH
VGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIR
VYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCISAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIP
VVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPAT
VPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRN
GFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS*

Gene Symbol:IFNGR1
Accession:NM_001363526
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKSPENSLLQFQFKYGVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDH
VGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIR
VYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCISAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIP
VVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPAT
VPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRN
GFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS*

Gene Symbol:IFNGR1
Accession:NM_001363527
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFAV
CRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIRVYNVYVRMNGSEIQYKILTQKEDDCDEIQCQ
LAIPVSSLNSQYCISAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSI
ILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEEN
IPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRNGFDTDSSCLESHSSLSDSEFPPNNKGEIKTE
GQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS*

Gene Symbol:IFNGR1
Accession:XM_047418726
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKSPENSLLQFQFKYGVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHHYCNISDH
VGDPSNSLWVRVKARVGQKESAYAKSEEFAVCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIR
VYNVYVRMNGSEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCISAEGVLHVWGVTTEKSKEVCITIFNSSIKGSLWIP
VVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKPESKYVSLITSYQPFSLEKEVVCEEPLSPAT
VPGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRN
GFDTDSSCLESHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYRPTEDSKEFS*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001153464 CLINVAR
dbSNP (RS) rs1779346306 CLINVAR
MedGen C4011949 CLINVAR
NCBI Gene IFNGR1 CLINVAR
OMIM 107470 CLINVAR
  209950 CLINVAR