RGD:28891732 Rat Genome Database

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Variant: RGD:28891732 -  Homo sapiens

RGD ID: 28891732
RS ID: rs1568666169
ClinVar ID: CV885888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THBD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 23,029,257
GRCh38 20 23,048,620
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.23029257G>A
NM_000361.2:c.885C>T
NP_000352.1:p.Phe295=
NG_012027.1:g.6045C>T
More... 		01/13/2018 synonymous variant uncertain significance AHUS, SUSCEPTIBILITY TO, 6; Atypical hemolytic-uremic syndrome 6; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:THBD
Accession:NM_000361
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVRSSVAADVISLLLNGDGG
VGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEV
KADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
GAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQ
HRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHE
PHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDC
DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKE
VVLQHVRTERTPQRL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001139504 CLINVAR
dbSNP (RS) rs1568666169 CLINVAR
MedGen C2752036 CLINVAR
NCBI Gene THBD CLINVAR
OMIM 188040 CLINVAR
  612926 CLINVAR