NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV191616 (NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met)) Homo sapiens

Symbol: CV191616
Name: NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met)
RGD ID: 10050229
Condition: Congenital muscular dystrophy [RCV000415163]|Nemaline myopathy 2 [RCV001080816]|not provided [RCV000724204]|not specified [RCV000202808]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 01/13/2020
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: NEB   RIF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_202t1:c.25472C>T
LRG_202:g.249480C>T
NG_009382.2:g.249480C>T
NC_000002.12:g.151490008G>A
NC_000002.11:g.152346522G>A
NM_001271208.2:c.25472C>T
NM_001271208.1:c.25472C>T
NP_004534.3:p.Thr6600Met
NP_001157979.1:p.Thr8456Met
NP_001157980.1:p.Thr8456Met
NP_001258137.2:p.Thr8491Met
NM_004543.5:c.19799C>T
NM_001164507.1:c.25367C>T
NM_001164508.1:c.25367C>T
NM_004543.4:c.19799C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382151,490,008 - 151,490,008CLINVAR
GRCh372152,346,522 - 152,346,522CLINVAR
Cytogenetic Map22q23.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000202808 CLINVAR
  RCV000415163 CLINVAR
  RCV000724204 CLINVAR
  RCV001080816 CLINVAR
dbSNP (RS) rs78592085 CLINVAR
MedGen C0699743 CLINVAR
  C1850569 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene NEB CLINVAR
  RIF1 CLINVAR
OMIM 161650 CLINVAR
  256030 CLINVAR
  608952 CLINVAR
SNOMED CT 240059009 CLINVAR