RGD:13211363 Rat Genome Database

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Variant: RGD:13211363 -  Homo sapiens

RGD ID: 13211363
RS ID: rs776460030
ClinVar ID: CV425925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CREB3L1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 46,337,914
GRCh38 11 46,316,363
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033264.1:g.43726C>T
NC_000011.10:g.46316363C>T
NC_000011.9:g.46337914C>T
NP_443086.1:p.Thr370Ile
More... 		06/02/2017 missense variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CREB3L1
Accession:NM_052854
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFDDPVLDEKSPLLDMELDSPTP
GIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALGHKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLG
LSPLSRLPIPHQAPGEMTQLPVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKNKISAQESRRKKKEYVECLEK
KVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNKISRPYKMAAIQTGTCLMVAALCFVLVLGSLVPCLPEFSSG
SQTVKEDPLAADGVYTASQMPSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTK
YLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS*

Gene Symbol:CREB3L1
Accession:XM_006718380
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000497336 CLINVAR
  RCV003488637 CLINVAR
dbSNP (RS) rs776460030 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CREB3L1 CLINVAR
OMIM 616215 CLINVAR