NM_001330701.1(AGTPBP1):c.2552C>T (p.Thr851Met)Rat Genome Database

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Variant : CV590701 (NM_001330701.1(AGTPBP1):c.2552C>T (p.Thr851Met)) Homo sapiens

Symbol: CV590701
Name: NM_001330701.1(AGTPBP1):c.2552C>T (p.Thr851Met)
RGD ID: 14349832
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735997]
Clinical Significance: pathogenic
Last Evaluated: 01/11/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|research
HGVS Name(s): NC_000009.12:g.85592576G>A
NC_000009.11:g.88207491G>A
NP_001317630.1:p.Thr851Met
NM_001286717.1:c.2588C>T
NM_001330701.1:c.2552C>T
NM_015239.2:c.2432C>T
NM_001286715.1:c.2708C>T
NP_056054.2:p.Thr811Met
NP_001273646.1:p.Thr863Met
NP_001273644.1:p.Thr903Met
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,592,576 - 85,592,576CLINVAR
GRCh37988,207,491 - 88,207,491CLINVAR
Cytogenetic Map99q21.33CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868   PMID:30420557   PMID:33624935  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000735997 CLINVAR
dbSNP (RS) rs760300826 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0004 CLINVAR