NM_001330701.2(AGTPBP1):c.1240C>T (p.Arg414Ter)Rat Genome Database

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Variant : CV971342 (NM_001330701.2(AGTPBP1):c.1240C>T (p.Arg414Ter)) Homo sapiens

Symbol: CV971342
Name: NM_001330701.2(AGTPBP1):c.1240C>T (p.Arg414Ter)
RGD ID: 40815678
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001263149]
Clinical Significance: pathogenic
Last Evaluated: 09/30/2020
Review Status: criteria provided, single submitter
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: research
HGVS Name(s): NP_056054.2:p.Arg374Ter
NP_001317630.1:p.Arg414Ter
NP_001273646.1:p.Arg426Ter
NM_001286717.1:c.1276C>T
NM_001286715.1:c.1396C>T
NC_000009.12:g.85642889G>A
NP_001273644.1:p.Arg466Ter
NM_015239.3:c.1120C>T
NM_001330701.2:c.1240C>T
NC_000009.11:g.88257804G>A
NM_015239.2:c.1120C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,642,889 - 85,642,889CLINVAR
GRCh37988,257,804 - 88,257,804CLINVAR
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 RCV001263149 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR