RGD:11599473 Rat Genome Database

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Variant: RGD:11599473 -  Homo sapiens

RGD ID: 11599473
RS ID: rs34208922
ClinVar ID: CV306729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELN  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 73,483,531
GRCh38 7 74,069,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009261.1:g.46105_46106insA
NC_000007.14:g.74069201_74069202insA
NC_000007.13:g.73483531_73483532insA
NM_000501.4:c.*501_*502insA
More...
06/14/2016 3 prime utr variant benign Cutis laxa, dominant type; Supravalvar aortic stenosis, Eisenberg type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELN
Accession:NM_001081754
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001081753
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_000501
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001081755
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001081752
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278939
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278915
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278912
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278916
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278913
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278914
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278917
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:NM_001278918
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_005250187
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_005250188
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515870
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515874
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515875
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515868
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515876
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515873
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515872
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515877
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515871
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_011515869
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_017011814
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_017011813
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419965
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419959
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419981
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419968
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419971
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419954
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419970
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419972
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419966
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419969
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419967
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419956
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419957
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419963
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419978
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419964
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419958
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419979
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419955
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419973
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419960
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419976
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419962
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419961
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419980
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419977
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419974
Location:3UTRS;EXON

Gene Symbol:ELN
Accession:XM_047419975
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265718 CLINVAR
  RCV000358024 CLINVAR
dbSNP (RS) rs34208922 CLINVAR
MedGen C0003499 CLINVAR
  C0268350 CLINVAR
NCBI Gene ELN CLINVAR
OMIM 130160 CLINVAR
  185500 CLINVAR
SNOMED CT 111388003 CLINVAR
  268185002 CLINVAR