NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln)Rat Genome Database

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Variant : CV1017217 (NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln)) Homo sapiens

Symbol: CV1017217
Name: NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln)
RGD ID: 126744923
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330542]
Clinical Significance: uncertain significance
Last Evaluated: 06/03/2020
Review Status: criteria provided, single submitter
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_015239.3:c.2723G>A
NM_001330701.2:c.2843G>A
NM_001286717.1:c.2879G>A
NM_001286715.1:c.2999G>A
NC_000009.12:g.85588358C>T
NC_000009.11:g.88203273C>T
NP_001273644.1:p.Arg1000Gln
NP_056054.2:p.Arg908Gln
NP_001317630.1:p.Arg948Gln
NP_001273646.1:p.Arg960Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,588,358 - 85,588,358CLINVAR
GRCh37988,203,273 - 88,203,273CLINVAR
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 RCV001330542 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR