RGD:126745494 Rat Genome Database

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Variant: RGD:126745494 -  Homo sapiens

RGD ID: 126745494
RS ID: rs768667473
ClinVar ID: CV976168
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THBD  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 23,029,766
GRCh38 20 23,049,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_168t1:c.376G>T
LRG_168:g.5536G>T
NG_012027.1:g.5536G>T
NC_000020.11:g.23049129C>A
More... 		09/13/2019 missense variant uncertain significance Atypical HUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:THBD
Accession:NM_000361
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVRSSVAADVISLLLNGDGG
VGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYSRWARLYLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEV
KADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
GAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQ
HRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHE
PHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDC
DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKE
VVLQHVRTERTPQRL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001328107 CLINVAR
dbSNP (RS) rs768667473 CLINVAR
MedGen C2931788 CLINVAR
NCBI Gene THBD CLINVAR
OMIM 188040 CLINVAR