NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs)Rat Genome Database

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Variant : CV513435 (NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs)) Homo sapiens

Symbol: CV513435
Name: NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs)
RGD ID: 13528413
Condition: AGTPBP1-related condition [RCV000625987]|Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735995]
Clinical Significance: pathogenic
Last Evaluated: 01/11/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: AGTPBP1  
Variant Type: deletion (SO:0001587)
Source: CLINVAR
Molecular Consequence: frameshift variant|nonsense
Evidence: clinical testing|literature only|research
HGVS Name(s): NM_001286715.1:c.2892delC
NM_001330701.1:c.2736del
p.Y964X
NC_000009.12:g.85588465del
NC_000009.11:g.88203380del
NM_001286715.1:c.2892del
NP_056054.2:p.Pro871_Tyr872insTer
NP_001317630.1:p.Pro911_Tyr912insTer
NP_001273646.1:p.Pro923_Tyr924insTer
NP_001273644.1:p.Pro963_Tyr964insTer
NM_015239.2:c.2616del
NM_001286717.1:c.2772del
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,588,465 - 85,588,465CLINVAR
GRCh37988,203,380 - 88,203,380CLINVAR
Cytogenetic Map99q21.33CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868   PMID:30420557  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625987 CLINVAR
  RCV000735995 CLINVAR
dbSNP (RS) rs780631499 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0002 CLINVAR