RGD:13534746 Rat Genome Database

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Variant: RGD:13534746 -  Homo sapiens

RGD ID: 13534746
RS ID: rs1167547039
ClinVar ID: CV502591
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRSAM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,219,583
GRCh38 9 127,457,304
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_373t1:c.175-12C>T
NM_138361.5:c.175-12C>T
LRG_373:g.10819C>T
NG_032008.1:g.10819C>T
More... 		11/07/2017 intron variant likely benign AllHighlyPenetrant; Charcot-Marie-Tooth disease type 2P; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; Charcot-Marie-Tooth Neuropathy Type 2G; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P; CMT 2G
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRSAM1
Accession:NM_001384144
Location:5UTRS;INTRON

Gene Symbol:LRSAM1
Accession:XM_047424059
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001005374
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001190723
Location:INTRON

Gene Symbol:LRSAM1
Accession:XM_047424058
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384143
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384142
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001005373
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_138361
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000601994 CLINVAR
  RCV003117398 CLINVAR
dbSNP (RS) rs1167547039 CLINVAR
MedGen C3280797 CLINVAR
  CN169374 CLINVAR
NCBI Gene LRSAM1 CLINVAR
OMIM 608591 CLINVAR
  610933 CLINVAR
  614436 CLINVAR