NM_004193.3(GBF1):c.3525G>A (p.Trp1175Ter)Rat Genome Database

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Variant : CV961921 (NM_004193.3(GBF1):c.3525G>A (p.Trp1175Ter)) Homo sapiens

Symbol: CV961921
Name: NM_004193.3(GBF1):c.3525G>A (p.Trp1175Ter)
RGD ID: 38471650
Condition: Motor axonal neuropathy [RCV001250272]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: GBF1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant
Evidence: research
HGVS Name(s): NR_165086.1:n.3785G>A
NM_001199379.2:c.3525G>A
NM_001377141.1:c.3525G>A
NM_004193.3:c.3525G>A
NM_001199378.2:c.3528G>A
NM_001377137.1:c.3528G>A
NC_000010.11:g.102370728G>A
NC_000010.10:g.104130485G>A
NR_165085.1:n.3478G>A
NR_165089.1:n.3544G>A
NR_165088.1:n.3619G>A
NR_165087.1:n.3724G>A
NP_001364068.1:p.Trp1077Ter
NP_001364069.1:p.Trp1077Ter
NP_001364067.1:p.Trp1163Ter
NP_001186308.1:p.Trp1175Ter
NP_001364070.1:p.Trp1175Ter
NP_004184.1:p.Trp1175Ter
NP_001186307.1:p.Trp1176Ter
NP_001364066.1:p.Trp1176Ter
NM_001377139.1:c.3231G>A
NM_001377140.1:c.3231G>A
NM_001377138.1:c.3489G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3810102,370,728 - 102,370,728CLINVAR
GRCh3710104,130,485 - 104,130,485CLINVAR
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 RCV001250272 CLINVAR
MedGen C2749625 CLINVAR
NCBI Gene GBF1 CLINVAR
OMIM 603698 CLINVAR