RGD:156051343 Rat Genome Database

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Variant: RGD:156051343 -  Homo sapiens

RGD ID: 156051343
ClinVar ID: CV2367746
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOXL2  LOXL2-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 23,217,674
GRCh38 8 23,360,161
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002318.3:c.460G>A
NC_000008.11:g.23360161C>T
NC_000008.10:g.23217674C>T
NM_002318.2:c.460G>A
More... 		09/14/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LOXL2
Accession:NM_002318
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPLCSHLCSCLAMLALLSPLSLAQYDSWPHYPEYFQQPAPEYHQPQAPANVAKIQLRLAGQKRKHSEGRVEVYYDGQW
GTVCDDDFSIHAAHVVCRELGYVEAKSWTASSSYGKGEGPIWLDNLHCTGNEATLAACTSNGWGVTDCKHTEDFGVVCSD
KRIPGFKFDNSLINQIENLNIQVEDIRIRAILSTYRKRTPVMEGYVEVKEGKTWKQICDKHWTAKNSRVVCGMFGFPGER
TYNTKVYKMFASRRKQRYWPFSMDCTGTEAHISSCKLGPQVSLDPMKNVTCENGLPAVVSCVPGQVFSPDGPSRFRKAYK
PEQPLVRLRGGAYIGEGRVEVLKNGEWGTVCDDKWDLVSASVVCRELGFGSAKEAVTGSRLGQGIGPIHLNEIQCTGNEK
SIIDCKFNAESQGCNHEEDAGVRCNTPAMGLQKKLRLNGGRNPYEGRVEVLVERNGSLVWGMVCGQNWGIVEAMVVCRQL
GLGFASNAFQETWYWHGDVNSNKVVMSGVKCSGTELSLAHCRHDGEDVACPQGGVQYGAGVACSETAPDLVLNAEMVQQT
TYLEDRPMFMLQCAMEENCLSASAAQTDPTTGYRRLLRFSSQIHNNGQSDFRPKNGRHAWIWHDCHRHYHSMEVFTHYDL
LNLNGTKVAEGHKASFCLEDTECEGDIQKNYECANFGDQGITMGCWDMYRHDIDCQWVDITDVPPGDYLFQVVINPNFEV
AESDYSNNIMKCRSRYDGHRIWMYNCHIGGSFSEETEKKFEHFSGLLNNQLSPQ*

Gene Symbol:LOXL2-AS1
Accession:NR_038323
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004213704 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOXL2 CLINVAR
  LOXL2-AS1 CLINVAR
OMIM 606663 CLINVAR