RGD:150505113 Rat Genome Database

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Variant: RGD:150505113 -  Homo sapiens

RGD ID: 150505113
RS ID: rs60813863
ClinVar ID: CV1213449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CREB3L1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 46,338,977
GRCh38 11 46,317,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052854.4:c.1197C>T
NG_033264.1:g.44789C>T
NC_000011.10:g.46317426C>T
NC_000011.9:g.46338977C>T
More... 		12/17/2021 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CREB3L1
Accession:NM_052854
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFDDPVLDEKSPLLDMELDSPTP
GIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALGHKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLG
LSPLSRLPIPHQAPGEMTQLPVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKNKISAQESRRKKKEYVECLEK
KVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNKISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSG
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 RCV001595705 CLINVAR
dbSNP (RS) rs60813863 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CREB3L1 CLINVAR
OMIM 616215 CLINVAR