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Variant : CV319136 (NM_001110219.3(GJB6):c.-122T>C) Homo sapiens

Symbol: CV319136
Name: NM_001110219.3(GJB6):c.-122T>C
Condition: Hidrotic ectodermal dysplasia syndrome [RCV000338180]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
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_001370090.1:c.-122T>C
NM_001370091.1:c.-122T>C
NM_001370092.1:c.-122T>C
NM_006783.4:c.-122T>C
NG_008323.1:g.7710T>C
NC_000013.11:g.20229686A>G
NC_000013.10:g.20803825A>G
NM_001110219.3:c.-122T>C
NM_001110220.2:c.-122T>C
NM_001110221.2:c.-122T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381320,229,686 - 20,229,686CLINVAR
GRCh371320,803,825 - 20,803,825CLINVAR
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: 11651618
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-09-29
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.