RGD:28897901 Rat Genome Database

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Variant: RGD:28897901 -  Homo sapiens

RGD ID: 28897901
RS ID: rs550995668
ClinVar ID: CV867128
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,964,146
GRCh38 11 119,093,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1076:g.13560G>A
NC_000011.10:g.119093436G>A
NC_000011.9:g.118964146G>A
NM_000190.3:c.*153G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Acute Porphyria; HMBS deficiency; Hydroxymethylbilane Synthase Deficiency; Porphobilinogen deaminase deficiency; Porphyria, Swedish type; UPS deficiency; Uroporphyrinogen synthase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:XM_005271531
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:NM_000190
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:NM_001258209
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:XM_024448460
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:NM_001258208
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:XM_005271533
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:XM_005271532
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:XM_011542796
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:XM_017017629
Location:3UTRS;EXON

Gene Symbol:HMBS
Accession:NM_001024382
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001102783 CLINVAR
dbSNP (RS) rs550995668 CLINVAR
MedGen C0162565 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 176000 CLINVAR
  609806 CLINVAR
SNOMED CT 234422006 CLINVAR