RGD:126745491 Rat Genome Database

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Variant: RGD:126745491 -  Homo sapiens

RGD ID: 126745491
RS ID: rs1276712753
ClinVar ID: CV976167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THBD  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 23,029,379
GRCh38 20 23,048,742
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_168t1:c.763G>C
NC_000020.11:g.23048742C>G
NC_000020.10:g.23029379C>G
NM_000361.2:c.763G>C
More... 		01/06/2024 missense variant uncertain significance Atypical HUS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:THBD
Accession:NM_000361
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVRSSVAADVISLLLNGDGG
VGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEV
KADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
GAWDCSVENGGCEHPCNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQ
HRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHE
PHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDC
DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKE
VVLQHVRTERTPQRL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001328106 CLINVAR
  RCV003727966 CLINVAR
dbSNP (RS) rs1276712753 CLINVAR
MedGen C2931788 CLINVAR
  C3661900 CLINVAR
NCBI Gene THBD CLINVAR
OMIM 188040 CLINVAR