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Variant : CV327593 (NM_001110219.3(GJB6):c.666A>G (p.Ser222=)) Homo sapiens

Symbol: CV327593
Name: NM_001110219.3(GJB6):c.666A>G (p.Ser222=)
Condition: Hidrotic ectodermal dysplasia syndrome [RCV000291974]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: GJB6  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001110221.2:c.666A>G
NP_001103691.1:p.Ser222=
NP_001357019.1:p.Ser222=
NM_006783.4:c.666A>G
NG_008323.1:g.14581A>G
NC_000013.11:g.20222815T>C
NC_000013.10:g.20796954T>C
NP_006774.2:p.Ser222=
NP_001103689.1:p.Ser222=
NM_001110219.3:c.666A>G
NM_001110220.2:c.666A>G
NM_001370090.1:c.666A>G
NM_001370091.1:c.666A>G
NM_001370092.1:c.666A>G
NP_001103690.1:p.Ser222=
NP_001357020.1:p.Ser222=
NP_001357021.1:p.Ser222=
Position
Human AssemblyChrPosition (strand)Source
GRCh381320,222,815 - 20,222,815CLINVAR
GRCh371320,796,954 - 20,796,954CLINVAR
Cytogenetic Map1313q12.11CLINVAR
Trait Synonyms: Autosomal dominant hidrotic ectodermal dysplasia; CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA; Clouston syndrome; Clouston's hidrotic ectodermal dysplasia; ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; Ectodermal dysplasia 2, hidrotic; Hidrotic ectodermal dysplasia



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11616198
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.