Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV335558 (NM_001110219.3(GJB6):c.405G>A (p.Thr135=)) Homo sapiens

Symbol: CV335558
Name: NM_001110219.3(GJB6):c.405G>A (p.Thr135=)
Condition: Hidrotic ectodermal dysplasia syndrome [RCV000392327]|not specified [RCV000612322]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 04/28/2017
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_006783.4:c.405G>A
NG_008323.1:g.14320G>A
NC_000013.11:g.20223076C>T
NC_000013.10:g.20797215C>T
NP_006774.2:p.Thr135=
p.Thr135Thr
NP_001103689.1:p.Thr135=
NM_001370090.1:c.405G>A
NM_001370091.1:c.405G>A
NM_001370092.1:c.405G>A
NP_001357019.1:p.Thr135=
NM_001110219.3:c.405G>A
NM_001110220.2:c.405G>A
NM_001110221.2:c.405G>A
NP_001103690.1:p.Thr135=
NP_001103691.1:p.Thr135=
NP_001357020.1:p.Thr135=
NP_001357021.1:p.Thr135=
Position
Human AssemblyChrPosition (strand)Source
GRCh381320,223,076 - 20,223,076CLINVAR
GRCh371320,797,215 - 20,797,215CLINVAR
Cytogenetic Map1313q12.11CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11618416
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



NHLBI Logo

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