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Variant : CV556475 (NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter)) Homo sapiens

Symbol: CV556475
Name: NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter)
Condition: Rheumatoid arthritis [RCV000760295]
Clinical Significance: risk factor
Last Evaluated: 06/16/2017
Review Status: no assertion criteria provided
Related Genes: SUPT20H  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: research
HGVS Name(s): NM_001014286.3:c.73A>T
NM_001278482.1:c.73A>T
NM_001278480.1:c.73A>T
NC_000013.11:g.37047903T>A
NC_000013.10:g.37622040T>A
NP_001265409.1:p.Lys25Ter
NM_001278481.1:c.73A>T
NM_017569.3:c.73A>T
NP_001014308.2:p.Lys25Ter
NP_001265410.1:p.Lys25Ter
NP_001265411.1:p.Lys25Ter
NP_060039.1:p.Lys25Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381337,047,903 - 37,047,903CLINVAR
GRCh371337,622,040 - 37,622,040CLINVAR
Cytogenetic Map1313q13.3CLINVAR
Trait Synonyms: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000760295 CLINVAR
dbSNP (RS) rs1566328963 CLINVAR
MedGen C0003873 CLINVAR
NCBI Gene SUPT20H CLINVAR
OMIM 180300 CLINVAR
  613417 CLINVAR
SNOMED CT 69896004 CLINVAR

 
CRRD Object Information
CRRD ID: 14395717
Created: 2019-04-09
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.