RGD:12894733 Rat Genome Database

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Variant: RGD:12894733 -  Homo sapiens

RGD ID: 12894733
RS ID: rs1064793106
ClinVar ID: CV411451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 69,253,377
GRCh38 X 70,033,527
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009809.2:g.422461A>G
NC_000023.11:g.70033527A>G
NC_000023.10:g.69253377A>G
NP_001390.1:p.Glu308Gly
More... 		07/09/2015 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:EDA
Accession:XM_006724630
Location:EXON

Gene Symbol:EDA
Accession:NM_001399
Location:EXON

Gene Symbol:EDA
Accession:NM_001005613
Location:INTRON

Gene Symbol:EDA
Accession:XM_011530885
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005612
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005610
Location:INTRON

Gene Symbol:EDA
Accession:XM_017029336
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005609
Location:INTRON

Gene Symbol:EDA
Accession:XM_017029337
Location:INTRON

Gene Symbol:EDA
Accession:XR_001755660
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000483933 CLINVAR
dbSNP (RS) rs1064793106 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene EDA CLINVAR
OMIM 300451 CLINVAR