RGD:28884753 Rat Genome Database

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Variant: RGD:28884753 -  Homo sapiens

RGD ID: 28884753
RS ID: rs1371405396
ClinVar ID: CV901097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRSAM1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,265,570
GRCh38 9 127,503,291
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005373.4:c.*392G>T
NM_001005374.4:c.*392G>T
NM_001384143.1:c.*392G>T
NM_001384144.1:c.*392G>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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:XM_047424059
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:NM_001190723
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:NM_001384142
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:NM_001005374
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:NM_001384143
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:NM_138361
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:XM_047424058
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:NM_001005373
Location:3UTRS;EXON

Gene Symbol:LRSAM1
Accession:NM_001384144
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168577 CLINVAR
dbSNP (RS) rs1371405396 CLINVAR
MedGen C3280797 CLINVAR
NCBI Gene LRSAM1 CLINVAR
OMIM 608591 CLINVAR
  610933 CLINVAR
  614436 CLINVAR