LOCUS       S73017                    36 bp    mRNA    linear   HUM 24-JUL-2016
DEFINITION  Homo sapiens neurofibromin 1 (NF1) mRNA, partial cds.
ACCESSION   S73017
VERSION     S73017.1
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 36)
  AUTHORS   Estivill,X., Lazaro,C., Casals,T. and Ravella,A.
  TITLE     Recurrence of a nonsense mutation in the NF1 gene causing classical
            neurofibromatosis type 1
  JOURNAL   Hum. Genet. 88 (2), 185-188 (1991)
   PUBMED   1757093
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 73017] from the original journal article.
COMMENT     C to T transition at position 1087.
FEATURES             Location/Qualifiers
     source          1..36
                     /db_xref="H-InvDB:HIT000216458"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            <1..36
                     /gene="NF1"
     CDS             <1..21
                     /gene="NF1"
                     /note="mutation results in premature termination in exon
                     4"
                     /codon_start=1
                     /product="neurofibromin 1"
                     /protein_id="AAB20699.1"
                     /translation="HNDDAK"
     variation       19
                     /gene="NF1"
                     /replace="c"
BASE COUNT           14 a            6 c            7 g            9 t
ORIGIN      
        1 cataatgatg atgccaaatg acaaagagtt actgct
//