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Variant : CV651751 (NC_000008.10:g.(?_144990335)_(145701149_?)dup) Homo sapiens

Symbol: CV651751
Name: NC_000008.10:g.(?_144990335)_(145701149_?)dup
Condition: Epidermolysa bullosa simplex and limb girdle muscular dystrophy [RCV000823255]
Clinical Significance: uncertain significance
Last Evaluated: 12/20/2018
Review Status: criteria provided, single submitter
Related Genes: ADCK5   BOP1   CPSF1   CYC1   CYHR1   DGAT1   EXOSC4   FBXL6   FOXH1   GPAA1   GRINA   HGH1   HSF1   KIFC2   MAF1   MIR1234   MIR661   MROH1   OPLAH   PARP10   PLEC   SCRT1   SCX   SHARPIN   SLC39A4   SLC52A2   SPATC1   TMEM249   TONSL   VPS28  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000008.10:g.(?_144990335)_(145701149_?)dup
Human AssemblyChrPosition (strand)Source
GRCh378144,990,335 - 145,701,149CLINVAR
Cytogenetic Map88q24.3CLINVAR
Trait Synonyms: EBS WITH PYLORIC ATRESIA; EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY; Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis Bullosa with Pyloric Atresia; Limb-girdle muscular dystrophy, type 2Q; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; PLEC-Related Epidermolysis Bullosa with Pyloric Atresia

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14713333
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.