NM_001271208.2(NEB):c.7362C>G (p.Asn2454Lys)Rat Genome Database

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Variant : CV360821 (NM_001271208.2(NEB):c.7362C>G (p.Asn2454Lys)) Homo sapiens

Symbol: CV360821
Name: NM_001271208.2(NEB):c.7362C>G (p.Asn2454Lys)
RGD ID: 12741689
Condition: Congenital muscular dystrophy [RCV000414918]|Nemaline myopathy 2 [RCV001197482]
Clinical Significance: uncertain significance
Last Evaluated: 05/21/2014
Review Status: criteria provided, single submitter
Related Genes: NEB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_202t1:c.7362C>G
LRG_202:g.89243C>G
NG_009382.2:g.89243C>G
NC_000002.12:g.151650245G>C
NC_000002.11:g.152506759G>C
NM_001271208.2:c.7362C>G
NM_004543.5:c.7362C>G
NM_001271208.1:c.7362C>G
NM_001164508.1:c.7362C>G
NM_001164507.1:c.7362C>G
NP_001157979.1:p.Asn2454Lys
NP_001157980.1:p.Asn2454Lys
NP_001258137.2:p.Asn2454Lys
NP_004534.3:p.Asn2454Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh382151,650,245 - 151,650,245CLINVAR
GRCh372152,506,759 - 152,506,759CLINVAR
Cytogenetic Map22q23.3CLINVAR
Trait Synonyms: Congenital MD; Muscle weakness; Muscular weakness; Nemaline myopathy 2, autosomal recessive; Nemaline myopathy caused by mutation in the nebulin gene



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000414918 CLINVAR
  RCV001197482 CLINVAR
dbSNP (RS) rs1057518861 CLINVAR
MedGen C0699743 CLINVAR
  C1850569 CLINVAR
NCBI Gene NEB CLINVAR
OMIM 161650 CLINVAR
  256030 CLINVAR
SNOMED CT 240059009 CLINVAR