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Variant : CV319135 (NM_001110219.3(GJB6):c.60C>T (p.Ile20=)) Homo sapiens

Symbol: CV319135
Name: NM_001110219.3(GJB6):c.60C>T (p.Ile20=)
Condition: Deafness, autosomal recessive 1A [RCV000890545]|Hidrotic ectodermal dysplasia syndrome [RCV000266682]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/20/2018
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.60C>T
NG_008323.1:g.13975C>T
NC_000013.11:g.20223421G>A
NC_000013.10:g.20797560G>A
NP_006774.2:p.Ile20=
NM_001370091.1:c.60C>T
NM_001370092.1:c.60C>T
NP_001103690.1:p.Ile20=
NP_001103691.1:p.Ile20=
NP_001103689.1:p.Ile20=
NM_001110219.3:c.60C>T
NM_001110220.2:c.60C>T
NM_001110221.2:c.60C>T
NM_001370090.1:c.60C>T
NP_001357019.1:p.Ile20=
NP_001357020.1:p.Ile20=
NP_001357021.1:p.Ile20=
Position
Human AssemblyChrPosition (strand)Source
GRCh381320,223,421 - 20,223,421CLINVAR
GRCh371320,797,560 - 20,797,560CLINVAR
Cytogenetic Map1313q12.11CLINVAR
Trait Synonyms: Autosomal dominant hidrotic ectodermal dysplasia; CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA; Clouston syndrome; Clouston's hidrotic ectodermal dysplasia; Connexin 26 deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal dominant 3b; Deafness, autosomal recessive 1b; DFNB 1 Nonsyndromic Hearing Loss and Deafness; ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; Ectodermal dysplasia 2, hidrotic; GJB2-related deafness; GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11599586
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.