NM_001286715.1(AGTPBP1):c.2492-1G>TRat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV513436 (NM_001286715.1(AGTPBP1):c.2492-1G>T) Homo sapiens

Symbol: CV513436
Name: NM_001286715.1(AGTPBP1):c.2492-1G>T
RGD ID: 13528411
Condition: AGTPBP1-related condition [RCV000625986]|Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735994]
Clinical Significance: pathogenic
Last Evaluated: 01/11/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Nucleotide Change: ivs17as, g-t, -1
Evidence: clinical testing|literature only|research
HGVS Name(s): NC_000009.12:g.85596450C>A
NM_001286715.1:c.2492-1G>T
NC_000009.11:g.88211365C>A
NM_001330701.1:c.2336-1G>T
NM_015239.2:c.2216-1G>T
NM_001286717.1:c.2372-1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,596,450 - 85,596,450CLINVAR
GRCh37988,211,365 - 88,211,365CLINVAR
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 RCV000625986 CLINVAR
  RCV000735994 CLINVAR
dbSNP (RS) rs1554699491 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0001 CLINVAR