RGD:151869786 Rat Genome Database

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Variant: RGD:151869786 -  Homo sapiens

RGD ID: 151869786
RS ID: rs2134862558
ClinVar ID: CV1436482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 118,960,418
GRCh38 11 119,089,708
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1076t1:c.292A>G
LRG_1076t2:c.241A>G
NM_001024382.2:c.241A>G
NM_001258209.2:c.241A>G
More... 		09/17/2021 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:NM_001258209
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
EDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQA
TIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_005271532
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
EDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_005271531
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
EDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_011542796
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLEDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLE
TLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAV
GQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETM
QATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001258208
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLEDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTG
GVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA
H*

Gene Symbol:HMBS
Accession:XM_005271533
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLE
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLE
GGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISL
ANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001024382
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
EDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_024448460
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLE
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQAT
IHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_017017629
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
EDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_000190
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLEDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD
PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITA
RNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*
Variant Samples
Additional References at PubMed
PMID:7757070   PMID:27849156   PMID:28492532   PMID:32806544  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002018786 CLINVAR
dbSNP (RS) rs2134862558 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 609806 CLINVAR