RGD:13821353 Rat Genome Database

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Variant: RGD:13821353 -  Homo sapiens

RGD ID: 13821353
RS ID: rs569004868
ClinVar ID: CV562143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 73,471,761
GRCh38 7 74,057,431
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278939.1:c.1407C>T
NG_009261.1:g.34335C>T
NC_000007.14:g.74057431C>T
NC_000007.13:g.73471761C>T
More... 		01/06/2020 intron variant likely benign|uncertain significance none provided; Supravalvar aortic stenosis, Eisenberg type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELN
Accession:NM_001278939
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 469
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLG
AFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARF
PGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG
KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAA
GLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVG
AGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGV
PGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSA
AKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTP
SSPRVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVP
GVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKACGRKRK*

Gene Symbol:ELN
Accession:XM_047419981
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 469
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLG
AFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARF
PGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG
KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAA
GLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVG
AGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGV
PGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSA
AKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAVPGALAAAKAAKYGAAVPGVLGGLGALGG
VGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQ
FPLGGVAARPGFGLSPIFPGGACLGKACGRKRK*

Gene Symbol:ELN
Accession:XM_011515875
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515868
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419973
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515876
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419957
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419955
Location:INTRON

Gene Symbol:ELN
Accession:XM_017011814
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419971
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419966
Location:INTRON

Gene Symbol:ELN
Accession:NM_001278915
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419969
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419960
Location:INTRON

Gene Symbol:ELN
Accession:NM_001081754
Location:INTRON

Gene Symbol:ELN
Accession:NM_000501
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419962
Location:INTRON

Gene Symbol:ELN
Accession:NM_001278914
Location:INTRON

Gene Symbol:ELN
Accession:NM_001278917
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515870
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515872
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419965
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419976
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419977
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515877
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515871
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419968
Location:INTRON

Gene Symbol:ELN
Accession:NM_001081755
Location:INTRON

Gene Symbol:ELN
Accession:NM_001278918
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515873
Location:INTRON

Gene Symbol:ELN
Accession:XM_005250188
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419954
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419956
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419964
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419958
Location:INTRON

Gene Symbol:ELN
Accession:NM_001278912
Location:INTRON

Gene Symbol:ELN
Accession:XM_017011813
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419967
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515869
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419959
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419970
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419978
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419979
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419980
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419974
Location:INTRON

Gene Symbol:ELN
Accession:NM_001081752
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419972
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419963
Location:INTRON

Gene Symbol:ELN
Accession:NM_001081753
Location:INTRON

Gene Symbol:ELN
Accession:NM_001278913
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419961
Location:INTRON

Gene Symbol:ELN
Accession:NM_001278916
Location:INTRON

Gene Symbol:ELN
Accession:XM_047419975
Location:INTRON

Gene Symbol:ELN
Accession:XM_005250187
Location:INTRON

Gene Symbol:ELN
Accession:XM_011515874
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000695770 CLINVAR
  RCV001570152 CLINVAR
dbSNP (RS) rs569004868 CLINVAR
MedGen C0003499 CLINVAR
  C3661900 CLINVAR
NCBI Gene ELN CLINVAR
OMIM 130160 CLINVAR
  185500 CLINVAR
SNOMED CT 268185002 CLINVAR