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Results for the Protein: NP_075561
242332527

uncharacterized protein C5orf42 [Homo sapiens]

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 17
  VARIANT OF UNKNOWN SIGNIFICANCE
4
9
4
9
0
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RefSeq Protein: NP_075561
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7702892 Polymorphismp.GLY3062ARGN/A
dbSNPrs6859950 Polymorphismp.ILE1437THRN/A
dbSNPrs6884652 Polymorphismp.ILE2143VALN/A
dbSNPrs10076911 Polymorphismp.PHE2033CYSN/A
dbSNPrs75589774 Polymorphismp.PRO1794LEUN/A
dbSNPrs16903518 Polymorphismp.PRO2592LEUN/A
dbSNPrs79377186 Polymorphismp.SER1772GLYN/A
dbSNPrs76245173 Polymorphismp.THR1838ALAN/A
dbSNPrs73750959 Polymorphismp.VAL32ILEN/A
OMIM614571.0006 Diseasep.ALA1564THRVARIANT OF UNKNOWN SIGNIFICANCE
OMIM614571.0004 Diseasep.ARG1602TERJOUBERT SYNDROME 17
OMIM614571.0005 Diseasep.ARG2493TERJOUBERT SYNDROME 17
OMIM614571.0001 Diseasep.ARG1336TRPJOUBERT SYNDROME 17



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