Mutation Details for c.470T>A

cDNA Name c.470T>A 
Protein Name p.Phe157Tyr 
Exon or Intron exon 4 
Other Details The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. This mutation was not found on 100 non-CF chromosomes. The patient is an infertile man with congenital bilateral absence of vas deferens and unknown mutation on the other chromosome 
Contributors and Institutes
Sharma N - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Acharya N - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Singh SK - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Singh M - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kaur G - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Prasad R - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  
Submitted Phenotype Details This is a case of 32 year old infertile male married for 7 years. His sweat chloride was 63.4 mEq/L, Testosterone- 451ng/dl, FSH- 4.4 mIU/ml, LH- 4.7mIU/ml, Urea- 36 mg/dl and Creatinine- 0.7mg/dl. Semen analysis demonstrated nil sperm count and FNAC revealed normal spermatogenesis. Transrectal ultrasound and abdominal ultrasonography showed no other urogenital malformation. Chest X-ray was normal. However, on physical examination congenital bilateral absence of vas deferens was reported (pers. corr. Prasad).  
Reference  

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The Database was last updated at Apr 25, 2011