NM_004193.3(GBF1):c.4382G>A (p.Arg1461Gln)Rat Genome Database

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Variant : CV961226 (NM_004193.3(GBF1):c.4382G>A (p.Arg1461Gln)) Homo sapiens

Symbol: CV961226
Name: NM_004193.3(GBF1):c.4382G>A (p.Arg1461Gln)
RGD ID: 38473997
Condition: Motor axonal neuropathy [RCV001249190]
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_001377138.1:c.4346G>A
NM_001199379.2:c.4382G>A
NM_001377141.1:c.4382G>A
NM_004193.3:c.4382G>A
NM_001199378.2:c.4385G>A
NM_001377137.1:c.4385G>A
NC_000010.11:g.102377031G>A
NC_000010.10:g.104136788G>A
NR_165085.1:n.4335G>A
NR_165089.1:n.4401G>A
NR_165088.1:n.4476G>A
NR_165087.1:n.4581G>A
NM_001377139.1:c.4088G>A
NM_001377140.1:c.4088G>A
NP_001364069.1:p.Arg1363Gln
NP_001364067.1:p.Arg1449Gln
NP_001186308.1:p.Arg1461Gln
NP_001364070.1:p.Arg1461Gln
NP_004184.1:p.Arg1461Gln
NP_001186307.1:p.Arg1462Gln
NP_001364066.1:p.Arg1462Gln
NR_165086.1:n.4642G>A
NP_001364068.1:p.Arg1363Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh3810102,377,031 - 102,377,031CLINVAR
GRCh3710104,136,788 - 104,136,788CLINVAR
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 RCV001249190 CLINVAR
MedGen C2749625 CLINVAR
NCBI Gene GBF1 CLINVAR
OMIM 603698 CLINVAR