NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs)Rat Genome Database

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Variant : CV973103 (NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs)) Homo sapiens

Symbol: CV973103
Name: NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs)
RGD ID: 40886526
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001265647]
Clinical Significance: pathogenic
Last Evaluated: 06/17/2020
Review Status: criteria provided, single submitter
Related Genes: AGTPBP1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NM_001330701.2:c.820_821del
NM_015239.3:c.820_821del
NM_001286715.1:c.976_977del
NM_001286717.1:c.976_977del
NC_000009.12:g.85657524_85657525del
NC_000009.11:g.88272439_88272440del
NM_015239.2:c.820_821delCA
NP_001317630.1:p.Gln274fs
NP_056054.2:p.Gln274fs
NP_001273644.1:p.Gln326fs
NP_001273646.1:p.Gln326fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,657,523 - 85,657,524CLINVAR
GRCh37988,272,438 - 88,272,439CLINVAR
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 RCV001265647 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR