NM_015239.2(AGTPBP1):c.2632C>T (p.Arg878Trp)Rat Genome Database

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Variant : CV590704 (NM_015239.2(AGTPBP1):c.2632C>T (p.Arg878Trp)) Homo sapiens

Symbol: CV590704
Name: NM_015239.2(AGTPBP1):c.2632C>T (p.Arg878Trp)
RGD ID: 14349839
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000736000]
Clinical Significance: pathogenic
Last Evaluated: 01/14/2019
Review Status: no assertion criteria provided
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_001330701.1:c.2752C>T
NC_000009.12:g.85588449G>A
NC_000009.11:g.88203364G>A
NP_001317630.1:p.Arg918Trp
NM_001286715.1:c.2908C>T
NP_056054.2:p.Arg878Trp
NP_001273646.1:p.Arg930Trp
NP_001273644.1:p.Arg970Trp
NM_015239.2:c.2632C>T
NM_001286717.1:c.2788C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,588,449 - 85,588,449CLINVAR
GRCh37988,203,364 - 88,203,364CLINVAR
Cytogenetic Map99q21.33CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:30420557  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000736000 CLINVAR
dbSNP (RS) rs1564035967 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0007 CLINVAR