RGD:13812166 Rat Genome Database

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Variant: RGD:13812166 -  Homo sapiens

RGD ID: 13812166
RS ID: rs1569404780
ClinVar ID: CV573970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDA  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 69,247,705
GRCh38 X 70,027,855
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.416789A>T
NC_000023.11:g.70027855A>T
NC_000023.10:g.69247705A>T
NM_001399.5:c.527-2A>T
More... 		08/14/2018 splice acceptor variant pathogenic Anhidrotic ectodermal dysplasia X-linked; Christ Siemens Touraine syndrome; Christ-Siemans-Touraine syndrome; CST SYNDROME; Ectodermal dysplasia 1; Ectodermal Dysplasia 1, Anhidrotic; ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDA
Accession:XM_017029337
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005612
Location:INTRON

Gene Symbol:EDA
Accession:XM_006724630
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005609
Location:INTRON

Gene Symbol:EDA
Accession:XM_011530885
Location:INTRON

Gene Symbol:EDA
Accession:NM_001399
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005610
Location:INTRON

Gene Symbol:EDA
Accession:NM_001005613
Location:INTRON

Gene Symbol:EDA
Accession:XM_017029336
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9683615   PMID:16199547   PMID:24724966   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000689256 CLINVAR
dbSNP (RS) rs1569404780 CLINVAR
MedGen C0162359 CLINVAR
NCBI Gene EDA CLINVAR
OMIM 300451 CLINVAR
  305100 CLINVAR
SNOMED CT 239007005 CLINVAR