OMIM: 600376Inheritance: Autosomal dominant
Classification: Diseases of the circulatory system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ACVRL1 |
|---|
| Dna Change: | c.1113_1114insG |
|---|
| Protein Change: | p.Thr372AspfsX20 |
|---|
| Mutation Type: | Duplication |
|---|
| Mutation Effect: | Frameshift |
|---|
| Location: | exon 8 |
|---|
| Transcript: | NM_000020.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | Rhone-Alpes | 17/160 unrelated patients | NA | Lesca G et al., 2004Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S, , . Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.. Hum. Mutat.. 2004; 23(4):289-99 |
| France | NA | NA | NA | 325 years ago (13 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
| Gene/Locus: | ACVRL1 |
|---|
| Dna Change: | c.1120C>T |
|---|
| Protein Change: | p.Arg374Trp |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 8 |
|---|
| Transcript: | NM_000020.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | NA | 275 years ago (11 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
| Gene/Locus: | ACVRL1 |
|---|
| Dna Change: | c.1231C>T |
|---|
| Protein Change: | p.Arg411Trp |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 8 |
|---|
| Transcript: | NM_000020.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | NA | 375 years ago (15 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
| Gene/Locus: | ACVRL1 |
|---|
| Dna Change: | c.1121G>A |
|---|
| Protein Change: | p.Arg374Gln |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 8 |
|---|
| Transcript: | NM_000020.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | NA | 100 years ago (4 generations) | Lesca G et al., 2008Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , . Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.. Eur. J. Hum. Genet.. 2008; 16(6):742-9 |
References
Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H, , Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.Eur. J. Hum. Genet.. 2008; 16(6):742-9
Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S, , Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.Hum. Mutat.. 2004; 23(4):289-99