Proband information
Proband id |
2154 |
Systematic Name (NM_004992.3:) |
c.1081C>G |
Protein name (NP_004983) |
p.Pro361Ala |
Alternate systematic Name (NM_001110792.1:) |
c.1117C>G |
Alternate Protein name (NP_001104262) |
p.(Pro373Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296198G>C |
Mutation type |
Missense |
Domain |
C-term |
Pathogenicity |
Unknown |
Evidence of Pathogenicity |
|
Detection |
Not known |
Extent |
Exons 2-4 (at least) |
Source of DNA |
Blood or skin |
Carrier |
Y |
Carrier result |
Mother has variation |
Other mutations |
N |
X-inactivation results |
|
X-inactivation relatives |
|
Gender |
Female |
Sporadic/Familial |
Not known |
Phenotype-class |
Not Known |
Reference |
:Cardiff, UK:: |
Matching entries in the proband database
No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1081C>G |
p.Pro361Ala |
Female |
Mother has variation |
Not Known |
2154 |
:Cardiff, UK:: |
2 |
c.1081C>G |
p.Pro361Ala |
Female |
Relative of proband |
Not Rett synd. |
2155 |
:Cardiff, UK:: |
3 |
c.1081C>G |
p.Pro361Ala |
Male |
Mother has variation |
Not Known |
2156 |
:Cardiff, UK:: |
4 |
c.1081C>G |
p.Pro361Ala |
Female |
Relative of proband |
Not Rett synd. |
2157 |
:Cardiff, UK:: |