RGD:155973268 Rat Genome Database

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Variant: RGD:155973268 -  Homo sapiens

RGD ID: 155973268
ClinVar ID: CV2211005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127830112  LOXL1  LOXL1-AS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 74,219,345
GRCh38 15 73,927,004
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.73927004G>C
NC_000015.9:g.74219345G>C
NM_005576.4:c.221G>C
NG_131594.1:g.137G>C
More... 		08/12/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LOXL1
Accession:NM_005576
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSEYVPAGPQRSESSSPVLLAGA
PQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFGFGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSA
SAFASTYRQQPSYPQQFPYPQAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVIYPYQPRARYEEYGGG
EELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQAHGGDPRLGWYPPYANPPPEA
YGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVYRPNQNGRGLPDLVPDPNYVQASTYVQRAHLYSLRCAAEEK
CLASTAYAPEATDYDVRVLLRFPQRVKNQGTADFLPNRPRHTWEWHSCHQHYHSMDEFSHYDLLDAATGKKVAEGHKASF
CLEDSTCDFGNLKRYACTSHTQGLSPGCYDTYNADIDCQWIDITDVQPGNYILKVHVNPKYIVLESDFTNNVVRCNIHYT
GRYVSATNCKIVQS*

Gene Symbol:LOXL1
Accession:XM_011521555
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSEYVPAGPQRSESSSPVLLAGA
PQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFGFGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSA
SAFASTYRQQPSYPQQFPYPQAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVIYPYQPRARYEEYGGG
EELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQAHGGDPRLGWYPPYANPPPEA
YGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVYRPNQNGRVTPAQTPACPGRKVEGQEQDGQAPGSGTSWGTR
DHKDGGSLQTSPGRLTPGLAGERARASLRSLFMLFSLPWTPFPAL*

Gene Symbol:LOXL1
Accession:XM_047432498
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSEYVPAGPQRSESSSPVLLAGA
PQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFGFGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSA
SAFASTYRQQPSYPQQFPYPQAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVIYPYQPRARYEEYGGG
EELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQAHGGDPRLGWYPPYANPPPEA
YGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVYRPNQNGRVTPAQTPACPGRKVEGQEQDGQAPGSGTSWGTR
DHKDGGSLQTSPGRLTPGLAGERARASLRSP*

Gene Symbol:LOXL1
Accession:XM_017022179
Location:INTRON

Gene Symbol:LOXL1-AS1
Accession:NR_040069
Location:INTRON;NON-CODING

Gene Symbol:LOXL1-AS1
Accession:NR_040068
Location:INTRON;NON-CODING

Gene Symbol:LOXL1-AS1
Accession:NR_040070
Location:INTRON;NON-CODING

Gene Symbol:LOXL1-AS1
Accession:NR_040067
Location:INTRON;NON-CODING

Gene Symbol:LOXL1-AS1
Accession:NR_040066
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004088199 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOXL1 CLINVAR
  LOXL1-AS1 CLINVAR
OMIM 153456 CLINVAR
  616800 CLINVAR