| Phenotype: | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
|---|---|
| Dna Change: | c.232+1G>A (c.IVS2+1G>A) |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | Splice site |
| Location: | intron 2 |
| Transcript: | NM_000067.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | NA | 22 patients (from 12 families)/24 patients (from 14 families) | NA | Fathallah DM et al., 1997Fathallah DM, Bejaoui M, Lepaslier D, Chater K, Sly WS, Dellagi K, . Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus.. Hum. Genet.. 1997; 99(5):634-7 |
Fathallah DM, Bejaoui M, Lepaslier D, Chater K, Sly WS, Dellagi K, Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus.Hum. Genet.. 1997; 99(5):634-7