rs140772352 Rat Genome Database

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Variant: rs140772352 -  Homo sapiens

RGD ID: 8561714
RS ID: rs140772352
ClinVar ID: CV25519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAGE2B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 55,057,617
GRCh38 X 55,031,184
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_000032.4:c.-258C>G
NG_008983.1:g.4881C>G
LRG_1163:g.4881C>G
NC_000023.10:g.55057617G>C
More... 		06/01/2024 2kb upstream variant pathogenic|benign|likely benign|uncertain significance all ages|variable ALAS2-related condition; Anemia, hereditary sideroblastic 1, pyridoxine refractory; Anemia, sideroblastic, 1; ANEMIA, SIDEROBLASTIC, 1, PYRIDOXINE REFRACTORY; Erythroid 5-aminolevulinate synthase deficiency; none provided; X chromosome-linked sideroblastic anemia; X-linked pyridoxine-refractory sideroblastic anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAGE2B
Accession:XM_011530786
Location:INTRON

Gene Symbol:PAGE2B
Accession:XM_017029513
Location:INTRON

Gene Symbol:PAGE2B
Accession:XM_011530785
Location:INTRON

Gene Symbol:PAGE2B
Accession:NM_001015038
Location:INTRON

Gene Symbol:PAGE2B
Accession:XM_011530787
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12663458   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011226 CLINVAR
  RCV001520731 CLINVAR
  RCV004751209 CLINVAR
dbSNP (RS) rs140772352 CLINVAR
MedGen C3661900 CLINVAR
  C4551511 CLINVAR
NCBI Gene ALAS2 CLINVAR
  PAGE2B CLINVAR
OMIM 300751 CLINVAR
  301300 CLINVAR
OMIM Allele 301300.0013 CLINVAR