NM_015239.2(AGTPBP1):c.1960T>G (p.Tyr654Asp)Rat Genome Database

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Variant : CV590705 (NM_015239.2(AGTPBP1):c.1960T>G (p.Tyr654Asp)) Homo sapiens

Symbol: CV590705
Name: NM_015239.2(AGTPBP1):c.1960T>G (p.Tyr654Asp)
RGD ID: 14349842
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000736001]
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_015239.2:c.1960T>G
NP_056054.2:p.Tyr654Asp
NP_001273644.1:p.Tyr746Asp
NC_000009.12:g.85621221A>C
NM_001286717.1:c.2116T>G
NM_001286715.1:c.2236T>G
NM_001330701.1:c.2080T>G
NC_000009.11:g.88236136A>C
NP_001317630.1:p.Tyr694Asp
NP_001273646.1:p.Tyr706Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,621,221 - 85,621,221CLINVAR
GRCh37988,236,136 - 88,236,136CLINVAR
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 RCV000736001 CLINVAR
dbSNP (RS) rs1564071824 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0008 CLINVAR