Proband information


Proband id 2136
Systematic Name
(NM_004992.3:)		 c.585C>T
Protein name
(NP_004983)		 p.Gly195Gly
Alternate systematic Name
(NM_001110792.1:)		 c.621C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296694G>A
Mutation type Silent
Domain Inter-domain region
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
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.585C>T p.Gly195Gly Female Not Known 2136 :Cardiff, UK::