NM_015239.2(AGTPBP1):c.2849A>T (p.His950Leu)Rat Genome Database

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Variant : CV590702 (NM_015239.2(AGTPBP1):c.2849A>T (p.His950Leu)) Homo sapiens

Symbol: CV590702
Name: NM_015239.2(AGTPBP1):c.2849A>T (p.His950Leu)
RGD ID: 14349834
Condition: Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735998]
Clinical Significance: pathogenic
Last Evaluated: 01/11/2019
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): NC_000009.11:g.88201810T>A
NP_001317630.1:p.His990Leu
NM_001330701.1:c.2969A>T
NC_000009.12:g.85586895T>A
NM_015239.2:c.2849A>T
NM_001286717.1:c.3005A>T
NM_001286715.1:c.3125A>T
NP_001273646.1:p.His1002Leu
NP_001273644.1:p.His1042Leu
NP_056054.2:p.His950Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38985,586,895 - 85,586,895CLINVAR
GRCh37988,201,810 - 88,201,810CLINVAR
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 RCV000735998 CLINVAR
dbSNP (RS) rs1564034077 CLINVAR
MedGen C4748934 CLINVAR
NCBI Gene AGTPBP1 CLINVAR
OMIM 606830 CLINVAR
  618276 CLINVAR
OMIM Allele 606830.0005 CLINVAR