RGD:401769147 Rat Genome Database

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Variant: RGD:401769147 -  Homo sapiens

RGD ID: 401769147
ClinVar ID: CV2693319
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LYAR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 4,269,653
GRCh38 4 4,267,926
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145725.2:c.1103T>G
NM_017816.3:c.1103T>G
NC_000004.12:g.4267926A>C
NC_000004.11:g.4269653A>C
More... 		06/02/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LYAR
Accession:NM_017816
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFFTCNACGESVKKIQVEKHVSVCRNCECLSCIDCGKDFWGDDYKNHVKCISEDQKYGGKGYEGKTHKGDIKQQAWIQK
ISELIKRPNVSPKVRELLEQISAFDNVPRKKAKFQNWMKNSLKVHNESILDQVWNIFSEASNSEPVNKEQDQRPLHPVAN
PHAEISTKVPASKVKDAVEQQGEVKKNKRERKEERQKKRKREKKELKLENHQENSRNQKPKKRKKGQEADLEAGGEEVPE
ANGSAGKRSKKKKQRKDSASEEEARVGAGKRKRRHSEVETDSKKKKMKLPEHPEGGEPEDDEAPAKGKFNWKGTIKAILK
QAPDNEITIKKLRKKVLAQYYTVTDEHHRSEEELLVIFNKKISKNPTCKLLKDKVKLVK*

Gene Symbol:LYAR
Accession:NM_001145725
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFFTCNACGESVKKIQVEKHVSVCRNCECLSCIDCGKDFWGDDYKNHVKCISEDQKYGGKGYEGKTHKGDIKQQAWIQK
ISELIKRPNVSPKVRELLEQISAFDNVPRKKAKFQNWMKNSLKVHNESILDQVWNIFSEASNSEPVNKEQDQRPLHPVAN
PHAEISTKVPASKVKDAVEQQGEVKKNKRERKEERQKKRKREKKELKLENHQENSRNQKPKKRKKGQEADLEAGGEEVPE
ANGSAGKRSKKKKQRKDSASEEEARVGAGKRKRRHSEVETDSKKKKMKLPEHPEGGEPEDDEAPAKGKFNWKGTIKAILK
QAPDNEITIKKLRKKVLAQYYTVTDEHHRSEEELLVIFNKKISKNPTCKLLKDKVKLVK*

Gene Symbol:LYAR
Accession:XM_011513506
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFFTCNACGESVKKIQVEKHVSVCRNCECLSCIDCGKDFWGDDYKNHVKCISEDQKYGGKGYEGKTHKGDIKQQAWIQK
ISELIKRPNVSPKVRELLEQISAFDNVPRKKAKFQNWMKNSLKVHNESILDQVWNIFSEASNSEPVNKEQDQRPLHPVAN
PHAEISTKVPASKVKDAVEQQGEVKKNKRERKEERQKKRKREKKELKLENHQENSRNQKPKKRKKGQEADLEAGGEEVPE
ANGSAGKRSKKKKQRKDSASEEEARVGAGKRKRRHSEVETDSKKKKMKLPEHPEGGEPEDDEAPAKGKFNWKGTIKAILK
QAPDNEITIKKLRKKVLAQYYTVTDEHHRSEEELLVIFNKKISKNPTCKLLKDKVKLVK*

Gene Symbol:LYAR
Accession:XM_011513505
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFFTCNACGESVKKIQVEKHVSVCRNCECLSCIDCGKDFWGDDYKNHVKCISEDQKYGGKGYEGKTHKGDIKQQAWIQK
ISELIKRPNVSPKVRELLEQISAFDNVPRKKAKFQNWMKNSLKVHNESILDQVWNIFSEASNSEPVNKEQDQRPLHPVAN
PHAEISTKVPASKVKDAVEQQGEVKKNKRERKEERQKKRKREKKELKLENHQENSRNQKPKKRKKGQEADLEAGGEEVPE
ANGSAGKRSKKKKQRKDSASEEEARVGAGKRKRRHSEVETDSKKKKMKLPEHPEGGEPEDDEAPAKGKFNWKGTIKAILK
QAPDNEITIKKLRKKVLAQYYTVTDEHHRSEEELLVIFNKKISKNPTCKLLKDKVKLVK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004295282 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LYAR CLINVAR
OMIM 617684 CLINVAR