NM_004193.3(GBF1):c.3410C>T (p.Ala1137Val)Rat Genome Database

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Variant : CV963436 (NM_004193.3(GBF1):c.3410C>T (p.Ala1137Val)) Homo sapiens

Symbol: CV963436
Name: NM_004193.3(GBF1):c.3410C>T (p.Ala1137Val)
RGD ID: 38598925
Condition: Motor axonal neuropathy [RCV001251623]
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.3410C>T
NP_001186307.1:p.Ala1138Val
NP_001364066.1:p.Ala1138Val
NR_165089.1:n.3429C>T
NM_001377139.1:c.3116C>T
NM_001377140.1:c.3116C>T
NR_165087.1:n.3609C>T
NP_001364067.1:p.Ala1125Val
NM_001377138.1:c.3374C>T
NM_001199379.2:c.3410C>T
NM_001377141.1:c.3410C>T
NR_165088.1:n.3504C>T
NP_001364069.1:p.Ala1039Val
NP_001186308.1:p.Ala1137Val
NP_001364070.1:p.Ala1137Val
NP_001364068.1:p.Ala1039Val
NR_165085.1:n.3363C>T
NR_165086.1:n.3670C>T
NP_004184.1:p.Ala1137Val
NM_001199378.2:c.3413C>T
NM_001377137.1:c.3413C>T
NC_000010.11:g.102370385C>T
NC_000010.10:g.104130142C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3810102,370,385 - 102,370,385CLINVAR
GRCh3710104,130,142 - 104,130,142CLINVAR
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 RCV001251623 CLINVAR
MedGen C2749625 CLINVAR
NCBI Gene GBF1 CLINVAR
OMIM 603698 CLINVAR