NM_015239.2(AGTPBP1):c.2446C>T (p.Gln816Ter)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV590700 (NM_015239.2(AGTPBP1):c.2446C>T (p.Gln816Ter)) Homo sapiens

Symbol: CV590700
Name: NM_015239.2(AGTPBP1):c.2446C>T (p.Gln816Ter)
RGD ID: 14349830
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735996]
Clinical Significance: pathogenic
Last Evaluated: 01/11/2019
Review Status: no assertion criteria provided
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NM_015239.2:c.2446C>T
NP_001273644.1:p.Gln908Ter
NM_001330701.1:c.2566C>T
NC_000009.12:g.85592562G>A
NC_000009.11:g.88207477G>A
NP_001317630.1:p.Gln856Ter
NM_001286717.1:c.2602C>T
NM_001286715.1:c.2722C>T
NP_056054.2:p.Gln816Ter
NP_001273646.1:p.Gln868Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,592,562 - 85,592,562CLINVAR
GRCh37988,207,477 - 88,207,477CLINVAR
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 RCV000735996 CLINVAR
dbSNP (RS) rs1564041582 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0003 CLINVAR