RGD:8556228 Rat Genome Database

Variant: RGD:8556228 - Homo sapiens

RGD ID:

8556228

RS ID:

rs118204106

ClinVar ID:

CV16497

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HMBS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	118,959,794
GRCh38	11	119,089,084

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_008093.1:g.9208G>T NC_000011.10:g.119089084G>T NC_000011.9:g.118959794G>T NP_000181.2:p.Ala55Ser More...	01/28/2022	missense\|missense variant	pathogenic\|uncertain significance	adolescence / young adulthood\|adolescent	1-9 / 1 000 000\|<1 / 1 000 000	Acute Porphyria; AllHighlyPenetrant; HMBS deficiency; Hydroxymethylbilane Synthase Deficiency; none provided; Porphobilinogen deaminase deficiency; Porphyria, Swedish type; UPS deficiency; Uroporphyrinogen synthase deficiency

Disease Annotations Click to see Annotation Detail View

acute intermittent porphyria (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	HMBS
Accession:	XM_011542796
Location:	5UTRS;EXON

Gene Symbol:	HMBS
Accession:	NM_001258209
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQA TIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:	HMBS
Accession:	XM_005271532
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:	HMBS
Accession:	NM_001258208
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKE LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTG GVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA H*

Gene Symbol:	HMBS
Accession:	XM_005271531
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:	HMBS
Accession:	XM_024448460
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQAT IHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:	HMBS
Accession:	XM_005271533
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLE GGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISL ANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:	HMBS
Accession:	NM_000190
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKE LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITA RNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:	HMBS
Accession:	NM_001024382
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:	HMBS
Accession:	XM_017017629
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIISMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS LANLLLSKGAKNILDVARQLNDAH*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:8270254	PMID:9199558

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000001523	CLINVAR
	RCV002272005	CLINVAR
	RCV003234886	CLINVAR
dbSNP (RS)	rs118204106	CLINVAR
MedGen	C0162565	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	HMBS	CLINVAR
OMIM	176000	CLINVAR
	609806	CLINVAR
OMIM Allele	609806.0018	CLINVAR
SNOMED CT	234422006	CLINVAR

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8556228 - Homo sapiens

Imported Disease Annotations - ClinVar