RGD:152157584 Rat Genome Database

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Variant: RGD:152157584 -  Homo sapiens

RGD ID: 152157584
RS ID: rs142812375
ClinVar ID: CV1573249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  LOC127822741  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,955,774
GRCh38 11 119,085,064
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1076t1:c.31G>A
NM_001258209.2:c.-112G>A
NM_000190.4:c.31G>A
NM_001258208.2:c.31G>A
More...
12/14/2021 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:NM_001258209
Location:5UTRS;EXON

Gene Symbol:HMBS
Accession:XM_005271532
Location:5UTRS;EXON

Gene Symbol:HMBS
Accession:XM_005271531
Location:5UTRS;EXON

Gene Symbol:HMBS
Accession:NM_000190
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATTEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD
PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITA
RNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001258208
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATTEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTG
GVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA
H*

Gene Symbol:HMBS
Accession:XM_005271533
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATTLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLE
GGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISL
ANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_024448460
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATTLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQAT
IHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001024382
Location:INTRON

Gene Symbol:HMBS
Accession:XM_011542796
Location:INTRON

Gene Symbol:HMBS
Accession:XM_017017629
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002180348 CLINVAR
dbSNP (RS) rs142812375 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 609806 CLINVAR