RGD:151713572 Rat Genome Database

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Variant: RGD:151713572 -  Homo sapiens

RGD ID: 151713572
RS ID: rs2101864484
ClinVar ID: CV1405251
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX11B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 145,517,311
GRCh38 1 145,917,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184795.1:c.53T>C
NM_003846.3:c.95T>C
LRG_574:g.14759T>C
NG_032654.2:g.14759T>C
More... 		08/30/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PEX11B
Accession:NM_003846
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAWVRFSAQSQARERLCRAAQYACSLLGHARQRHGASPELQKQIRQLESHLSLGRKLLRLGNSADALESAKRAVHLSDV
VLRFCITVSHLNRALYFACDNVLWAGKSGLAPRVDQEKWAQRSFRYYLFSLIMNLSRDAYEIRLLMEQESSACSRRLKGS
GGGVPGGSETGGLGGPGTPGGGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDKLGLWRCGPGIVGLCGL
VSSILSILTLIYPWLRLKP*

Gene Symbol:PEX11B
Accession:NM_001184795
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKLRAAQYACSLLGHARQRHGASPELQKQIRQLESHLSLGRKLLRLGNSADALESAKRAVHLSDVVLRFCITVSHLNRA
LYFACDNVLWAGKSGLAPRVDQEKWAQRSFRYYLFSLIMNLSRDAYEIRLLMEQESSACSRRLKGSGGGVPGGSETGGLG
GPGTPGGGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDKLGLWRCGPGIVGLCGLVSSILSILTLIYPW
LRLKP*

Gene Symbol:PEX11B
Accession:NR_073492
Location:EXON;NON-CODING

Gene Symbol:PEX11B
Accession:NR_073491
Location:EXON;NON-CODING

Gene Symbol:PEX11B
Accession:NR_073493
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001889877 CLINVAR
dbSNP (RS) rs2101864484 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PEX11B CLINVAR
OMIM 603867 CLINVAR