RGD:155979427 Rat Genome Database

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Variant: RGD:155979427 -  Homo sapiens

RGD ID: 155979427
ClinVar ID: CV2222862
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMC3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 10,049,048
GRCh38 3 10,007,364
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000003.11:g.10049048G>C
NR_148535.2:n.605C>G
NP_001008737.1:p.Pro113Ala
NM_018447.4:c.-242+3659C>G
More... 		08/10/2021 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:EMC3
Accession:NM_018447
Location:5UTRS;INTRON

Gene Symbol:EMC3
Accession:XM_005265321
Location:5UTRS;INTRON

Gene Symbol:EMC3
Accession:NR_148535
Location:EXON;NON-CODING

Gene Symbol:EMC3
Accession:NM_001394674
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV004101685 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene 401052 CLINVAR
  EMC3 CLINVAR
OMIM 620273 CLINVAR