RGD:28870067 Rat Genome Database

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Variant: RGD:28870067 -  Homo sapiens

RGD ID: 28870067
RS ID: rs371725918
ClinVar ID: CV882790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPIN1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 11,959,602
GRCh38 2 11,819,476
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001349205.2:c.2403-8T>G
NM_001349199.2:c.2295-8T>G
NM_001349200.2:c.2373-8T>G
NM_145693.2:c.2295-8T>G
More... 		01/12/2018 intron variant uncertain significance MYOGLOBINURIA, FAMILIAL PAROXYSMAL PARALYTIC; Myoglobinuria, recurrent, autosomal recessive; RHABDOMYOLYSIS, ACUTE RECURRENT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LPIN1
Accession:NM_145693
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001261428
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001261427
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349208
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349207
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349204
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349202
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349200
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349199
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349206
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349203
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349201
Location:INTRON

Gene Symbol:LPIN1
Accession:NM_001349205
Location:INTRON

Gene Symbol:LPIN1
Accession:NR_146080
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001130992 CLINVAR
dbSNP (RS) rs371725918 CLINVAR
MedGen C1849386 CLINVAR
NCBI Gene LPIN1 CLINVAR
OMIM 268200 CLINVAR
  605518 CLINVAR