Mutation Details for c.376G>A
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cDNA Name
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c.376G>A
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Protein Name
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p.Gly126Ser
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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 detected in infertile male with congenital bilateral absence of vas deferens. Mutation on other allele was not identified. This mutation was not found on 100 non-CF chromosomes.
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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 27 year old infertile male married for 4 years. His sweat chloride was 88 mEq/L, Testosterone- 756ng/dl, FSH- 8.1 mIU/ml, LH- 4.3mIU/ml, Urea- 27 mg/dl and Creatinine- 0.9mg/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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