RGD:38477877 Rat Genome Database

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Variant: RGD:38477877 -  Homo sapiens

RGD ID: 38477877
RS ID: rs2036425705
ClinVar ID: CV938719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 42,754,596
GRCh38 19 42,250,444
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308402.2:c.-82G>A
NM_001312656.2:c.-82G>A
NM_006494.4:c.144G>A
NG_042802.1:g.9721G>A
More... 		10/09/2019 5 prime utr variant pathogenic Craniosynostosis 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERF
Accession:XM_047438395
Location:5UTRS;EXON

Gene Symbol:ERF
Accession:NM_001308402
Location:5UTRS;EXON

Gene Symbol:ERF
Accession:NM_001312656
Location:5UTRS;EXON

Gene Symbol:ERF
Accession:XM_047438394
Location:5UTRS;EXON

Gene Symbol:ERF
Accession:NM_001301035
Location:5UTRS;EXON

Gene Symbol:ERF
Accession:XM_047438396
Location:5UTRS;INTRON

Gene Symbol:ERF
Accession:NM_006494
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTPADTGFAFPDWAYKPESSPGSRQIQLWHFILELLRKEEYQGVIA*QGDYGEFVIKDPDEVARLWGVRKCKPQMNYDK
LSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGGSHFRFPPSTPSEVLSPTEDPR
SPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGEDPRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRG
GPEPLSPFPVSPLAGPGSLLPPQLSPALPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQS
VYNYHLSPRAFLHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKAVAGAD
KSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRAPPAPPKPEPGEAPGASQCMPL
KLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGGPLTPRRVSSDLQHATAQLSLEHRDS*
Variant Samples
Additional References at PubMed
PMID:23354439   PMID:26097063   PMID:28492532   PMID:28808027  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001205291 CLINVAR
dbSNP (RS) rs2036425705 CLINVAR
MedGen C4551902 CLINVAR
NCBI Gene ERF CLINVAR
OMIM 123100 CLINVAR
  611888 CLINVAR