NM_005340.7(HINT1):c.209A>G (p.Asp70Gly)Rat Genome Database

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Variant : CV551402 (NM_005340.7(HINT1):c.209A>G (p.Asp70Gly)) Homo sapiens

Symbol: CV551402
Name: NM_005340.7(HINT1):c.209A>G (p.Asp70Gly)
RGD ID: 13798589
Condition: Sensory axonal neuropathy [RCV000678468]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: HINT1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_032998.1:g.7770A>G
NP_005331.1:p.Asp70Gly
NC_000005.10:g.131162579T>C
NC_000005.9:g.130498272T>C
NM_005340.7:c.209A>G
NR_024610.2:n.352A>G
NR_134494.1:n.352A>G
NR_134495.1:n.352A>G
NR_024611.2:n.387A>G
NR_073488.1:n.387A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh385131,162,579 - 131,162,579CLINVAR
GRCh375130,498,272 - 130,498,272CLINVAR
Cytogenetic Map55q23.3CLINVAR
Trait Synonyms: Peripheral sensory axonal 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 RCV000678468 CLINVAR
dbSNP (RS) rs1561537267 CLINVAR
MedGen C1842587 CLINVAR
NCBI Gene HINT1 CLINVAR
OMIM 601314 CLINVAR