RGD:14738112 Rat Genome Database

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Variant: RGD:14738112 -  Homo sapiens

RGD ID: 14738112
RS ID: rs76072395
ClinVar ID: CV663338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERLIN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 37,606,963
GRCh38 8 37,749,445
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362878.2:c.425-114C>T
NM_007175.8:c.425-114C>T
NG_032059.1:g.17867C>T
NC_000008.11:g.37749445C>T
More... 		06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERLIN2
Accession:NM_001362878
Location:INTRON

Gene Symbol:ERLIN2
Accession:NM_001003791
Location:INTRON

Gene Symbol:ERLIN2
Accession:NM_007175
Location:INTRON

Gene Symbol:ERLIN2
Accession:NM_001003790
Location:INTRON

Gene Symbol:ERLIN2
Accession:NM_001362880
Location:INTRON

Gene Symbol:ERLIN2
Accession:XM_047421307
Location:INTRON

Gene Symbol:ERLIN2
Accession:XM_047421308
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000839251 CLINVAR
dbSNP (RS) rs76072395 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ERLIN2 CLINVAR
OMIM 611605 CLINVAR