NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu)Rat Genome Database

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Variant : CV971341 (NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu)) Homo sapiens

Symbol: CV971341
Name: NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu)
RGD ID: 40815679
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001263150]
Clinical Significance: likely pathogenic
Last Evaluated: 09/30/2020
Review Status: criteria provided, single submitter
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NP_001273644.1:p.Arg851Leu
NM_001330701.2:c.2396G>T
NM_001286717.1:c.2432G>T
NM_001286715.1:c.2552G>T
NC_000009.12:g.85596389C>A
NC_000009.11:g.88211304C>A
NM_015239.2:c.2276G>T
NM_015239.3:c.2276G>T
NP_056054.2:p.Arg759Leu
NP_001317630.1:p.Arg799Leu
NP_001273646.1:p.Arg811Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,596,389 - 85,596,389CLINVAR
GRCh37988,211,304 - 88,211,304CLINVAR
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 RCV001263150 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR