Proband information


Proband id 2016
Systematic Name
(NM_004992.3:)		 c.1324A>G
Protein name
(NP_004983)		 p.Thr442Ala
Alternate systematic Name
(NM_001110792.1:)		 c.1360A>G
Alternate Protein name
(NP_001104262)		 p.(Thr454Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295955T>C
Mutation type Missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Mother with random X-inactivation has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1324A>G p.Thr442Ala Female Mother with random X-inactivation has variation Not Known 2016 :::