RGD:401781214 Rat Genome Database

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Variant: RGD:401781214 -  Homo sapiens

RGD ID: 401781214
ClinVar ID: CV2726460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRRC59  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 48,460,551
GRCh38 17 50,383,190
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018509.4:c.722A>G
NG_029665.1:g.14971T>C
NC_000017.11:g.50383190T>C
NC_000017.10:g.48460551T>C
More... 		05/31/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRRC59
Accession:NM_018509
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKAGSKGGNLRDKLDGNELDLSLSDLNEVPVKELAALPKATILDLSCNKLTTLPSDFCGLTHLVKLDLSKNKLQQLPAD
FGRLVNLQHLDLLNNKLVTLPVSFAQLKNLKWLDLKDNPLDPVLAKVAGDCLDEKQCKQCANKVLQHMKAVQADQERERQ
RRLEVEREAEKKREAKQRAKEAQERELRKREKAEEKERRRKEYDALKAAKREQEKKPKKEANQAPKSKSGSRPRKPPPRK
RTRSWAVLKLLLLLLLFGVAGGLVACRVTELQQQPLCTSVNTIYDNAVQGLRRHEILQWVLQTDSQQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003308507 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene LRRC59 CLINVAR
OMIM 614854 CLINVAR