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Variant : CV319151 (NM_001110219.3(GJB6):c.-295-219G>A) Homo sapiens

Symbol: CV319151
Name: NM_001110219.3(GJB6):c.-295-219G>A
Condition: Hidrotic ectodermal dysplasia syndrome [RCV000369755]
Clinical Significance: benign|likely benign
Last Evaluated: 01/13/2018
Review Status: criteria provided, single submitter
Related Genes: GJB6  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_006783.4:c.-346G>A
NG_008323.1:g.6370G>A
NC_000013.11:g.20231026C>T
NC_000013.10:g.20805165C>T
NM_001110221.2:c.-186+1168G>A
NM_001110220.2:c.-186+356G>A
NM_001370090.1:c.-301-213G>A
NM_001370091.1:c.-186+356G>A
NM_001110219.3:c.-295-219G>A
NM_001370092.1:c.-295-219G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381320,231,026 - 20,231,026CLINVAR
GRCh371320,805,165 - 20,805,165CLINVAR
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: 11600876
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.