RGD:9690394 Rat Genome Database

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Variant: RGD:9690394 -  Homo sapiens

RGD ID: 9690394
RS ID: rs727504762
ClinVar ID: CV176449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 69,250,305
GRCh38 X 70,030,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.70030455T>G
NC_000023.10:g.69250305T>G
NG_009809.2:g.419389T>G
NM_001005609.2:c.742-14T>G
More...
09/18/2013 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EDA
Accession:NM_001005609
Location:INTRON

Gene Symbol:EDA
Accession:NM_001399
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005612
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005610
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005613
Location:INTRON

Gene Symbol:EDA
Accession:XM_006724630
Location:INTRON

Gene Symbol:EDA
Accession:XM_011530885
Location:INTRON

Gene Symbol:EDA
Accession:XM_017029336
Location:INTRON

Gene Symbol:EDA
Accession:XM_017029337
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000156072 CLINVAR
dbSNP (RS) rs727504762 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EDA CLINVAR
OMIM 300451 CLINVAR