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Variant : CV319142 (NM_001110219.3(GJB6):c.-295-129G>A) Homo sapiens

Symbol: CV319142
Name: NM_001110219.3(GJB6):c.-295-129G>A
Condition: Hidrotic ectodermal dysplasia syndrome [RCV000306205]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 01/12/2018
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.-256G>A
NG_008323.1:g.6460G>A
NC_000013.11:g.20230936C>T
NC_000013.10:g.20805075C>T
NM_001110221.2:c.-185-1187G>A
NM_001110220.2:c.-186+446G>A
NM_001370091.1:c.-186+446G>A
NM_001110219.3:c.-295-129G>A
NM_001370092.1:c.-295-129G>A
NM_001370090.1:c.-301-123G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381320,230,936 - 20,230,936CLINVAR
GRCh371320,805,075 - 20,805,075CLINVAR
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: 11604081
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.