RGD:152078060 Rat Genome Database

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Variant: RGD:152078060 -  Homo sapiens

RGD ID: 152078060
RS ID: rs114908146
ClinVar ID: CV1561098
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 156,582,041
GRCh38 7 156,789,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350955.2:c.-112+7042C>T
NM_001350956.2:c.-112+7042C>T
NM_001350958.2:c.-112+7042C>T
NM_001363413.2:c.-112+7042C>T
More... 		11/29/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMBR1
Accession:NM_001350956
Location:5UTRS;INTRON

Gene Symbol:LMBR1
Accession:NM_001350955
Location:5UTRS;INTRON

Gene Symbol:LMBR1
Accession:NM_001350958
Location:5UTRS;INTRON

Gene Symbol:LMBR1
Accession:NM_001363413
Location:5UTRS;INTRON

Gene Symbol:LMBR1
Accession:NM_001350953
Location:INTRON

Gene Symbol:LMBR1
Accession:NM_001350957
Location:INTRON

Gene Symbol:LMBR1
Accession:NM_022458
Location:INTRON

Gene Symbol:LMBR1
Accession:NM_001363409
Location:INTRON

Gene Symbol:LMBR1
Accession:XM_047420706
Location:INTRON

Gene Symbol:LMBR1
Accession:XM_017012515
Location:INTRON

Gene Symbol:LMBR1
Accession:XM_047420703
Location:INTRON

Gene Symbol:LMBR1
Accession:XM_047420705
Location:INTRON

Gene Symbol:LMBR1
Accession:NM_001350954
Location:INTRON

Gene Symbol:LMBR1
Accession:NM_001363411
Location:INTRON

Gene Symbol:LMBR1
Accession:NM_001363410
Location:INTRON

Gene Symbol:LMBR1
Accession:XM_005249558
Location:INTRON

Gene Symbol:LMBR1
Accession:XM_047420704
Location:INTRON

Gene Symbol:LMBR1
Accession:NM_001363412
Location:INTRON

Gene Symbol:LMBR1
Accession:XR_007060136
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:XR_007060134
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:XR_007060133
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:XR_007060131
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:XR_007060130
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:NR_146958
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:XR_007060137
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:XR_007060135
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:NR_146959
Location:INTRON;NON-CODING

Gene Symbol:LMBR1
Accession:XR_007060132
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002112376 CLINVAR
dbSNP (RS) rs114908146 CLINVAR
MedGen C1840529 CLINVAR
NCBI Gene LMBR1 CLINVAR
  SHH CLINVAR
OMIM 142945 CLINVAR
  600725 CLINVAR
  605522 CLINVAR