RGD:14699841 Rat Genome Database

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Variant: RGD:14699841 -  Homo sapiens

RGD ID: 14699841
RS ID: rs1588143215
ClinVar ID: CV625193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRSAM1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,263,423
GRCh38 9 127,501,144
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138361.5:c.2046+1G>T
NC_000009.12:g.127501144G>T
NC_000009.11:g.130263423G>T
NG_032008.1:g.54659G>T
More... 		06/01/2019 splice donor variant pathogenic|uncertain significance Charcot-Marie-Tooth Neuropathy; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRSAM1
Accession:NM_001384144
Location:INTRON

Gene Symbol:LRSAM1
Accession:XM_047424059
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384143
Location:INTRON

Gene Symbol:LRSAM1
Accession:XM_047424058
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001005373
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_138361
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384142
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001190723
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001005374
Location:INTRON

Gene Symbol:LRSAM1
Accession:NR_168891
Location:INTRON;NON-CODING

Gene Symbol:LRSAM1
Accession:NR_168892
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24894446  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000789358 CLINVAR
  RCV002275132 CLINVAR
dbSNP (RS) rs1588143215 CLINVAR
MedGen C0007959 CLINVAR
  C3661900 CLINVAR
NCBI Gene LRSAM1 CLINVAR
OMIM 610933 CLINVAR
SNOMED CT 50548001 CLINVAR