RGD:127319236 Rat Genome Database

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Variant: RGD:127319236 -  Homo sapiens

RGD ID: 127319236
RS ID: rs28990987
ClinVar ID: CV1156620
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 118,962,804
GRCh38 11 119,092,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1076t1:c.613-31A>G
LRG_1076t2:c.562-31A>G
NM_001024382.2:c.562-31A>G
NM_001258209.2:c.562-31A>G
More... 		12/04/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:XM_011542796
Location:INTRON

Gene Symbol:HMBS
Accession:XM_024448460
Location:INTRON

Gene Symbol:HMBS
Accession:NM_001258209
Location:INTRON

Gene Symbol:HMBS
Accession:NM_001258208
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271532
Location:INTRON

Gene Symbol:HMBS
Accession:NM_000190
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271533
Location:INTRON

Gene Symbol:HMBS
Accession:XM_017017629
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271531
Location:INTRON

Gene Symbol:HMBS
Accession:NM_001024382
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001522042 CLINVAR
dbSNP (RS) rs28990987 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 609806 CLINVAR