NM_001330701.2(AGTPBP1):c.1606C>T (p.Arg536Ter)Rat Genome Database

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Variant : CV1017218 (NM_001330701.2(AGTPBP1):c.1606C>T (p.Arg536Ter)) Homo sapiens

Symbol: CV1017218
Name: NM_001330701.2(AGTPBP1):c.1606C>T (p.Arg536Ter)
RGD ID: 126744916
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330541]
Clinical Significance: likely pathogenic
Last Evaluated: 05/05/2020
Review Status: criteria provided, single submitter
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_015239.3:c.1486C>T
NM_001330701.2:c.1606C>T
NM_001286717.1:c.1642C>T
NM_001286715.1:c.1762C>T
NC_000009.12:g.85633071G>A
NC_000009.11:g.88247986G>A
NP_056054.2:p.Arg496Ter
NP_001317630.1:p.Arg536Ter
NP_001273646.1:p.Arg548Ter
NP_001273644.1:p.Arg588Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,633,071 - 85,633,071CLINVAR
GRCh37988,247,986 - 88,247,986CLINVAR
Cytogenetic Map99q21.33CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001330541 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR