RGD:13214441 Rat Genome Database

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Variant: RGD:13214441 -  Homo sapiens

RGD ID: 13214441
RS ID: rs782140505
ClinVar ID: CV430934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 76,891,397
GRCh38 X 77,635,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1153:g.155364C>T
NG_008838.3:g.155364C>T
NC_000023.11:g.77635906G>A
NC_000023.10:g.76891397G>A
More... 		12/01/2020 intron variant benign|likely benign AllHighlyPenetrant; 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000501132 CLINVAR
  RCV001512873 CLINVAR
dbSNP (RS) rs782140505 CLINVAR
MedGen C1845055 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATRX CLINVAR
OMIM 300032 CLINVAR
  301040 CLINVAR
SNOMED CT 715342005 CLINVAR