Mutation Details for c.470T>A
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cDNA Name
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c.470T>A
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Protein Name
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p.Phe157Tyr
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Exon or Intron
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exon 4
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Other Details
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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
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Contributors and Institutes
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| 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. |
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Submitted Phenotype Details
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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).
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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