RGD:401780231 Rat Genome Database

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Variant: RGD:401780231 -  Homo sapiens

RGD ID: 401780231
ClinVar ID: CV2725943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKG7  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 51,875,078
GRCh38 19 51,371,824
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.51875078G>T
NM_005601.3:c.451C>A
NP_005592.1:p.Leu151Met
NM_001363693.2:c.*3C>A
More... 		05/30/2023 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NKG7
Accession:NM_001363693
Location:3UTRS;EXON

Gene Symbol:NKG7
Accession:NM_005601
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELCRSLALLGGSLGLMFCLIALSTDFWFEAVGPTHSAHSGLWPTGHGDIISGYIHVTQTFSIMAVLWALVSVSFLVLSC
FPSLFPPGHGPLVSTTAAFAAAISMVVAMAVYTSERWDQPPHPQIQTFFSWSFYLGWVSAILLLCTGALSMGAHCGGPRP
GYETL*

Gene Symbol:NKG7
Accession:XM_005258955
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELCRSLALLGGSLGLMFCLIALSTDFWFEAVGPTHSAHSGLWPTGHGDIISGHGPLVSTTAAFAAAISMVVAMAVYTSE
RWDQPPHPQIQTFFSWSFYLGWVSAILLLCTGALSMGAHCGGPRPGYETL*

Gene Symbol:NKG7
Accession:XM_006723228
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELCRSLALLGGSLGLMFCLIALSTDFWFEAVGPTHSAHSGLWPTGHGDIISAISMVVAMAVYTSERWDQPPHPQIQTFF
SWSFYLGWVSAILLLCTGALSMGAHCGGPRPGYETL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004324314 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NKG7 CLINVAR
OMIM 606008 CLINVAR