RGD:15141923 Rat Genome Database

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Variant: RGD:15141923 -  Homo sapiens

RGD ID: 15141923
RS ID: rs369089714
ClinVar ID: CV788125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAS2  LOC108663984  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 55,050,308
GRCh38 X 55,023,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001037967.4:c.304+843C>G
NM_000032.5:c.305-8C>G
NM_001037968.4:c.376+843C>G
NG_008983.1:g.12190C>G
More... 		12/28/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ALAS2
Accession:NM_000032
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_001037967
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_001037968
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000983065 CLINVAR
dbSNP (RS) rs369089714 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 108663984 CLINVAR
  ALAS2 CLINVAR
OMIM 301300 CLINVAR