RGD:156399630 Rat Genome Database

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Variant: RGD:156399630 -  Homo sapiens

RGD ID: 156399630
ClinVar ID: CV1984981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAS2  LOC108663984  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 55,052,234
GRCh38 X 55,025,801
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1163t1:c.181+19C>A
NM_000032.5:c.181+19C>A
NM_001037967.4:c.181+19C>A
NM_001037968.4:c.253+19C>A
More... 		09/25/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ALAS2
Accession:NM_001037967
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_001037968
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_000032
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002605476 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALAS2 CLINVAR
  LOC108663984 CLINVAR
OMIM 301300 CLINVAR