NM_001318789.2(TLR2):c.2029C>T (p.Arg677Trp)Rat Genome Database

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Variant : CV21702 (NM_001318789.2(TLR2):c.2029C>T (p.Arg677Trp)) Homo sapiens

Symbol: CV21702
Name: NM_001318789.2(TLR2):c.2029C>T (p.Arg677Trp)
RGD ID: 8559477
Condition: Leprosy, susceptibility to, 3 [RCV000007045]
Clinical Significance: risk factor
Last Evaluated: 03/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: TLR2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): NG_016229.1:g.25648C>T
NC_000004.12:g.153704936C>T
NC_000004.11:g.154626088C>T
NP_003255.2:p.Arg677Trp
O60603:p.Arg677Trp
NM_001318791.2:c.2029C>T
NP_001305718.1:p.Arg677Trp
NM_003264.5:c.2029C>T
NP_001305725.1:p.Arg677Trp
NM_001318795.2:c.2029C>T
NP_001305724.1:p.Arg677Trp
NP_001305716.1:p.Arg677Trp
NM_001318787.2:c.2029C>T
NM_001318789.2:c.2029C>T
NM_001318790.2:c.2029C>T
NM_001318793.2:c.2029C>T
NM_001318796.2:c.2029C>T
NP_001305719.1:p.Arg677Trp
NP_001305720.1:p.Arg677Trp
NP_001305722.1:p.Arg677Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh384153,704,936 - 153,704,936CLINVAR
GRCh374154,626,088 - 154,626,088CLINVAR
Cytogenetic Map44q31.3CLINVAR
Trait Synonyms: Leprosy 3
Age Of Onset: all ages



Disease Annotations     Click to see Annotation Detail View
leprosy  (IAGP)


References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:11476982   PMID:12646604   PMID:15726416   PMID:19111445  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007045 CLINVAR
dbSNP (RS) rs121917864 CLINVAR
MedGen C1968668 CLINVAR
NCBI Gene TLR2 CLINVAR
OMIM 246300 CLINVAR
  603028 CLINVAR
OMIM Allele 603028.0001 CLINVAR