RGD:11640491 Rat Genome Database

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Variant: RGD:11640491 -  Homo sapiens

RGD ID: 11640491
RS ID: rs564072063
ClinVar ID: CV266659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130001334  PLEC  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,008,159
GRCh38 8 143,933,991
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012492.1:g.47755G>C
NC_000008.11:g.143933991C>G
NC_000008.10:g.145008159C>G
NM_201379.3:c.1197+7G>C
More...
12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE; EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA; EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Limb-girdle muscular dystrophy, type 2Q; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; none provided; Pidermolysis bullosa simplex 5A, Ogna type; PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLEC
Accession:NM_000445
Location:INTRON

Gene Symbol:PLEC
Accession:NM_201378
Location:INTRON

Gene Symbol:PLEC
Accession:NM_201379
Location:INTRON

Gene Symbol:PLEC
Accession:NM_201380
Location:INTRON

Gene Symbol:PLEC
Accession:NM_201381
Location:INTRON

Gene Symbol:PLEC
Accession:NM_201382
Location:INTRON

Gene Symbol:PLEC
Accession:NM_201383
Location:INTRON

Gene Symbol:PLEC
Accession:NM_201384
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250981
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250982
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250976
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250983
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250984
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250979
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250978
Location:INTRON

Gene Symbol:PLEC
Accession:XM_005250980
Location:INTRON

Gene Symbol:PLEC
Accession:XM_006716588
Location:INTRON

Gene Symbol:PLEC
Accession:XM_006716589
Location:INTRON

Gene Symbol:PLEC
Accession:XM_006716590
Location:INTRON

Gene Symbol:PLEC
Accession:XM_011517130
Location:INTRON

Gene Symbol:PLEC
Accession:XM_011517132
Location:INTRON

Gene Symbol:PLEC
Accession:XM_011517131
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421872
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421890
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421875
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421889
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421893
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421877
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421891
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421884
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421870
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421882
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421895
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421878
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421892
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421888
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421874
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421881
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421869
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421880
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421887
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421873
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421886
Location:INTRON

Gene Symbol:PLEC
Accession:XM_047421879
Location:INTRON

Gene Symbol:PLEC
Accession:NM_001410941
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000339821 CLINVAR
  RCV001082651 CLINVAR
dbSNP (RS) rs564072063 CLINVAR
MedGen C2931072 CLINVAR
  CN517202 CLINVAR
NCBI Gene LOC130001334 CLINVAR
  PLEC CLINVAR
OMIM 131950 CLINVAR
  226670 CLINVAR
  601282 CLINVAR
  612138 CLINVAR
  613723 CLINVAR
  616487 CLINVAR
SNOMED CT 398071000 CLINVAR