NM_015239.2(AGTPBP1):c.2242C>T (p.Gln748Ter)Rat Genome Database

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Variant : CV590703 (NM_015239.2(AGTPBP1):c.2242C>T (p.Gln748Ter)) Homo sapiens

Symbol: CV590703
Name: NM_015239.2(AGTPBP1):c.2242C>T (p.Gln748Ter)
RGD ID: 14349837
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735999]|Neurodevelopmental disorder with cerebellar atrophy and with or without seizures [RCV001254700]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 05/28/2020
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: AGTPBP1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only|research
HGVS Name(s): p.Gln748Ter
NM_015239.2(AGTPBP1):c.2242C>T
NM_015239.2:c.2242C>T
NM_001286717.1:c.2398C>T
NM_001286715.1:c.2518C>T
NP_056054.2:p.Gln748Ter
NP_001273646.1:p.Gln800Ter
NP_001273644.1:p.Gln840Ter
NM_001330701.1:c.2362C>T
NC_000009.12:g.85596423G>A
NC_000009.11:g.88211338G>A
NP_001317630.1:p.Gln788Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,596,423 - 85,596,423CLINVAR
GRCh37988,211,338 - 88,211,338CLINVAR
Cytogenetic Map99q21.33CLINVAR



Additional References at PubMed
PMID:25741868   PMID:30420557  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000735999 CLINVAR
  RCV001254700 CLINVAR
dbSNP (RS) rs1564046794 CLINVAR
MedGen C4748032 CLINVAR
  C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618056 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0006 CLINVAR