NM_004193.3(GBF1):c.2945G>A (p.Cys982Tyr)Rat Genome Database
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Variant : CV961229 (NM_004193.3(GBF1):c.2945G>A (p.Cys982Tyr)) Homo sapiens

Symbol: CV961229
Name: NM_004193.3(GBF1):c.2945G>A (p.Cys982Tyr)
RGD ID: 38473748
Condition: Motor axonal neuropathy [RCV001249193]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: GBF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_004193.3:c.2945G>A
NR_165088.1:n.3039G>A
NR_165087.1:n.3144G>A
NR_165086.1:n.3205G>A
NP_001364069.1:p.Cys884Tyr
NM_001199378.2:c.2948G>A
NM_001377137.1:c.2948G>A
NC_000010.11:g.102368807G>A
NC_000010.10:g.104128564G>A
NR_165085.1:n.2898G>A
NR_165089.1:n.2964G>A
NP_004184.1:p.Cys982Tyr
NP_001186307.1:p.Cys983Tyr
NP_001364066.1:p.Cys983Tyr
NM_001377139.1:c.2651G>A
NM_001377140.1:c.2651G>A
NM_001377138.1:c.2909G>A
NM_001199379.2:c.2945G>A
NM_001377141.1:c.2945G>A
NP_001364068.1:p.Cys884Tyr
NP_001364067.1:p.Cys970Tyr
NP_001186308.1:p.Cys982Tyr
NP_001364070.1:p.Cys982Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh3810102,368,807 - 102,368,807CLINVAR
GRCh3710104,128,564 - 104,128,564CLINVAR
Cytogenetic Map1010q24.32CLINVAR
Trait Synonyms: Distal motor neuropathy; Length dependent motor neuropathy



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Additional Information

Database Acc Id Source(s)
ClinVar RCV001249193 CLINVAR
MedGen C2749625 CLINVAR
NCBI Gene GBF1 CLINVAR
OMIM 603698 CLINVAR