RGD:152081389 Rat Genome Database

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Variant: RGD:152081389 -  Homo sapiens

RGD ID: 152081389
RS ID: rs1293525623
ClinVar ID: CV1645068
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRX  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 76,777,727
GRCh38 X 77,522,249
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.6861+14T>C
NM_000489.6:c.6975+14T>C
LRG_1153:g.269021T>C
NG_008838.3:g.269021T>C
More... 		02/21/2021 intron variant likely 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; 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:NM_138270
Location:INTRON

Gene Symbol:ATRX
Accession:NM_000489
Location:INTRON

Gene Symbol:ATRX
Accession:XM_005262157
Location:INTRON

Gene Symbol:ATRX
Accession:XM_005262153
Location:INTRON

Gene Symbol:ATRX
Accession:XM_005262154
Location:INTRON

Gene Symbol:ATRX
Accession:XM_005262156
Location:INTRON

Gene Symbol:ATRX
Accession:XM_006724666
Location:INTRON

Gene Symbol:ATRX
Accession:XM_006724668
Location:INTRON

Gene Symbol:ATRX
Accession:XM_017029604
Location:INTRON

Gene Symbol:ATRX
Accession:XM_017029601
Location:INTRON

Gene Symbol:ATRX
Accession:XM_047442191
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002149357 CLINVAR
dbSNP (RS) rs1293525623 CLINVAR
MedGen C1845055 CLINVAR
NCBI Gene ATRX CLINVAR
OMIM 300032 CLINVAR
  301040 CLINVAR
SNOMED CT 715342005 CLINVAR