RGD:150411779 Rat Genome Database

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Variant: RGD:150411779 -  Homo sapiens

RGD ID: 150411779
RS ID: rs201046043
ClinVar ID: CV1198204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CREB3L1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 46,337,910
GRCh38 11 46,316,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.46337910G>A
NM_052854.4:c.1105G>A
NG_033264.1:g.43722G>A
NC_000011.10:g.46316359G>A
More... 		08/15/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CREB3L1
Accession:NM_052854
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFDDPVLDEKSPLLDMELDSPTP
GIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALGHKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLG
LSPLSRLPIPHQAPGEMTQLPVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKNKISAQESRRKKKEYVECLEK
KVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNKISRPYKMATTQTGTCLMVAALCFVLVLGSLVPCLPEFSSG
SQTVKEDPLAADGVYTASQMPSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTK
YLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS*

Gene Symbol:CREB3L1
Accession:XM_006718380
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001574134 CLINVAR
dbSNP (RS) rs201046043 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CREB3L1 CLINVAR
OMIM 616215 CLINVAR