RGD:15126821 Rat Genome Database

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Variant: RGD:15126821 -  Homo sapiens

RGD ID: 15126821
RS ID: rs782212670
ClinVar ID: CV685498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRX  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 76,872,076
GRCh38 X 77,616,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138270.5:c.5452+5A>C
NM_000489.6:c.5566+5A>C
LRG_1153:g.174662A>C
NM_000489.3:c.5566+5A>C
More... 		11/13/2020 intron variant benign Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked; Alpha-Thalassemia X-Linked Intellectual Disability Syndrome; ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED; ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATR, nondeletion type; ATR-X syndrome; none provided; X-linked alpha-thalassemia-mental retardation syndrome; XLMR hypotonic face syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATRX
Accession:XM_005262156
Location:INTRON

Gene Symbol:ATRX
Accession:XM_005262154
Location:INTRON

Gene Symbol:ATRX
Accession:XM_017029604
Location:INTRON

Gene Symbol:ATRX
Accession:XM_005262157
Location:INTRON

Gene Symbol:ATRX
Accession:XM_006724668
Location:INTRON

Gene Symbol:ATRX
Accession:XM_005262153
Location:INTRON

Gene Symbol:ATRX
Accession:XM_006724666
Location:INTRON

Gene Symbol:ATRX
Accession:XM_047442191
Location:INTRON

Gene Symbol:ATRX
Accession:XM_017029601
Location:INTRON

Gene Symbol:ATRX
Accession:NM_138270
Location:INTRON

Gene Symbol:ATRX
Accession:NM_000489
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000862815 CLINVAR
  RCV001672968 CLINVAR
  RCV002345951 CLINVAR
dbSNP (RS) rs782212670 CLINVAR
MedGen C0950123 CLINVAR
  C1845055 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATRX CLINVAR
OMIM 300032 CLINVAR
  301040 CLINVAR
SNOMED CT 715342005 CLINVAR