NM_015271.5(TRIM2):c.1918G>T (p.Gly640Cys)Rat Genome Database
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Variant : CV677221 (NM_015271.5(TRIM2):c.1918G>T (p.Gly640Cys)) Homo sapiens

Symbol: CV677221
Name: NM_015271.5(TRIM2):c.1918G>T (p.Gly640Cys)
RGD ID: 14978112
Condition: Peripheral axonal neuropathy [RCV000850295]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: TRIM2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000004.11:g.154243935G>T
NM_001351055.2:c.1888G>T
NM_001351054.2:c.1891G>T
NM_015271.5:c.1918G>T
NG_041788.1:g.174666G>T
NC_000004.12:g.153322783G>T
NP_001337986.1:p.Gly488Cys
NP_001123539.1:p.Gly613Cys
NP_001337985.1:p.Gly613Cys
NP_001337984.1:p.Gly630Cys
NP_001337983.1:p.Gly631Cys
NP_056086.2:p.Gly640Cys
NM_001351057.2:c.1462G>T
NM_001130067.2:c.1837G>T
NM_001351056.2:c.1837G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh384153,322,783 - 153,322,783CLINVAR
GRCh374154,243,935 - 154,243,935CLINVAR
Cytogenetic Map44q31.3CLINVAR



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 RCV000850295 CLINVAR
dbSNP (RS) rs1579721449 CLINVAR
MedGen C1263857 CLINVAR
NCBI Gene TRIM2 CLINVAR
OMIM 614141 CLINVAR