rs1847831145 Rat Genome Database

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Variant: rs1847831145 -  Homo sapiens

RGD ID: 28889000
RS ID: rs1847831145
ClinVar ID: CV903320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLE1  LOC101929270  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 131,301,985
GRCh38 9 128,539,706
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_484t1:c.1964+8G>T
LRG_484t2:c.1972G>T
NM_001003722.2:c.1964+8G>T
NM_001499.2:c.1972G>T
More... 		03/01/2020 intron variant likely benign|uncertain significance CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; Lethal arthrogryposis with anterior horn cell disease; Lethal autosomal recessive syndrome of multiple congenital contractures; Multiple contracture syndrome, Finnish type; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLE1
Accession:NM_001499
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 658
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSASALD
QPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQA
LSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE
GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRD
LLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQC
VLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKL
AEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKV
EQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMKQYQVQ
FWKMLILIKEDYFPRYQSC*

Gene Symbol:GLE1
Accession:NM_001411013
Location:INTRON

Gene Symbol:GLE1
Accession:NM_001003722
Location:INTRON

Gene Symbol:GLE1
Accession:XM_006717060
Location:INTRON

Gene Symbol:GLE1
Accession:XM_011518550
Location:INTRON

Gene Symbol:GLE1
Accession:XM_047423234
Location:INTRON

Gene Symbol:GLE1
Accession:XM_047423235
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GLE1
Accession:XM_011518549
Location:INTRON

Gene Symbol:GLE1
Accession:XM_024447519
Location:INTRON

Gene Symbol:GLE1
Accession:XM_047423236
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:LOC101929270
Accession:NR_188457
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001169789 CLINVAR
  RCV001169790 CLINVAR
  RCV001415899 CLINVAR
dbSNP (RS) rs1847831145 CLINVAR
MedGen C1854664 CLINVAR
  C3661900 CLINVAR
  C5193016 CLINVAR
NCBI Gene GLE1 CLINVAR
  LOC101929270 CLINVAR
OMIM 253310 CLINVAR
  603371 CLINVAR
  611890 CLINVAR