NM_001330701.2(AGTPBP1):c.437-3C>ARat Genome Database

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Variant : CV1017219 (NM_001330701.2(AGTPBP1):c.437-3C>A) Homo sapiens

Symbol: CV1017219
Name: NM_001330701.2(AGTPBP1):c.437-3C>A
RGD ID: 126744927
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330543]
Clinical Significance: uncertain significance
Last Evaluated: 08/17/2019
Review Status: criteria provided, single submitter
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001330701.2:c.437-3C>A
NM_015239.3:c.437-3C>A
NM_001286715.1:c.593-3C>A
NM_001286717.1:c.593-3C>A
NC_000009.12:g.85672684G>T
NC_000009.11:g.88287599G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,672,684 - 85,672,684CLINVAR
GRCh37988,287,599 - 88,287,599CLINVAR
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 RCV001330543 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR