RGD:151763427 Rat Genome Database

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Variant: RGD:151763427 -  Homo sapiens

RGD ID: 151763427
RS ID: rs2134854656
ClinVar ID: CV1471641
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,959,019
GRCh38 11 119,088,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1076t1:c.87+1G>A
LRG_1076t2:c.36+1G>A
NM_001024382.2:c.36+1G>A
NM_001258209.2:c.36+1G>A
More... 		08/18/2021 splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:XM_011542796
Location:5UTRS;INTRON

Gene Symbol:HMBS
Accession:NM_001258208
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271533
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271532
Location:INTRON

Gene Symbol:HMBS
Accession:XM_017017629
Location:INTRON

Gene Symbol:HMBS
Accession:NM_001258209
Location:INTRON

Gene Symbol:HMBS
Accession:NM_001024382
Location:INTRON

Gene Symbol:HMBS
Accession:XM_024448460
Location:INTRON

Gene Symbol:HMBS
Accession:NM_000190
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271531
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7757070   PMID:7962538   PMID:8825929   PMID:16199547   PMID:26075277   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001949413 CLINVAR
dbSNP (RS) rs2134854656 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 609806 CLINVAR