RGD:151770783 Rat Genome Database

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Variant: RGD:151770783 -  Homo sapiens

RGD ID: 151770783
RS ID: rs2134884302
ClinVar ID: CV1340094
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  LOC127822742  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,963,731
GRCh38 11 119,093,021
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1076t1:c.912G>A
LRG_1076t2:c.861G>A
NM_001258209.2:c.741G>A
NM_001258208.2:c.792G>A
More... 		02/01/2021 synonymous variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:NM_001258208
Location:INTRON

Gene Symbol:HMBS
Accession:XM_011542796
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271531
Location:INTRON

Gene Symbol:HMBS
Accession:NM_000190
Location:INTRON

Gene Symbol:HMBS
Accession:NM_001024382
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271533
Location:INTRON

Gene Symbol:HMBS
Accession:XM_017017629
Location:INTRON

Gene Symbol:HMBS
Accession:XM_005271532
Location:INTRON

Gene Symbol:HMBS
Accession:XM_024448460
Location:INTRON

Gene Symbol:HMBS
Accession:NM_001258209
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001874426 CLINVAR
dbSNP (RS) rs2134884302 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 609806 CLINVAR