RGD:13212476 Rat Genome Database

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Variant: RGD:13212476 -  Homo sapiens

RGD ID: 13212476
RS ID: rs1555221055
ClinVar ID: CV425923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CREB3L1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 46,299,708
GRCh38 11 46,278,157
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.5520G>T
NC_000011.10:g.46278157G>T
NC_000011.9:g.46299708G>T
NP_443086.1:p.Gly16Ter
More... 		06/13/2017 nonsense uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CREB3L1
Accession:XM_006718380
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVLEPFPADRLFP*SSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFDDPVLDEKSPLLDMELDSPTP
GIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALGHKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLG
LSPLSRLPIPHQAPGEMTQLPVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKNKISAQESRRKKKEYVECLEK
KVETFTSENNELWKKVETLENANSFSSGIQPLLCSLIGLENPT*

Gene Symbol:CREB3L1
Accession:NM_052854
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVLEPFPADRLFP*SSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFDDPVLDEKSPLLDMELDSPTP
GIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALGHKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLG
LSPLSRLPIPHQAPGEMTQLPVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKNKISAQESRRKKKEYVECLEK
KVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNKISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSG
SQTVKEDPLAADGVYTASQMPSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTK
YLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000498875 CLINVAR
dbSNP (RS) rs1555221055 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CREB3L1 CLINVAR
OMIM 616215 CLINVAR