rs146429002 Rat Genome Database

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Variant: rs146429002 -  Homo sapiens

RGD ID: 150425384
RS ID: rs146429002
ClinVar ID: CV1185495
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETHE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 44,015,293
GRCh38 19 43,511,141
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001320868.2:c.136+296G>A
NM_001320869.2:c.211+296G>A
NM_001320867.2:c.472+296G>A
NM_014297.5:c.505+296G>A
More... 		12/05/2018 intron variant likely benign none provided

Gene Symbol:ETHE1
Accession:NM_001320867
Location:INTRON

Gene Symbol:ETHE1
Accession:NM_014297
Location:INTRON

Gene Symbol:ETHE1
Accession:NM_001320868
Location:INTRON

Gene Symbol:ETHE1
Accession:NM_001320869
Location:INTRON

Gene Symbol:ETHE1
Accession:XM_005258687
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001557925 CLINVAR
dbSNP (RS) rs146429002 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ETHE1 CLINVAR
OMIM 608451 CLINVAR