RGD:8596833 Rat Genome Database

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Variant: RGD:8596833 -  Homo sapiens

RGD ID: 8596833
RS ID: rs104894416
ClinVar ID: CV20586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB6  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,797,510
GRCh38 13 20,223,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008323.1:g.14025T>A
NC_000013.11:g.20223371A>T
NC_000013.10:g.20797510A>T
NP_006774.2:p.Val37Glu
More... 		10/10/2014 missense|missense variant pathogenic childhood 1-9 / 100 000 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     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GJB6
Accession:NM_001370091
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:NM_001110220
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:XM_047430056
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:NM_001370092
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:NM_001370090
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:NM_006783
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:NM_001110219
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:NM_001110221
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*

Gene Symbol:GJB6
Accession:XM_047430057
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILEVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ
LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS*
Variant Samples
Additional References at PubMed
PMID:11874494  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005886 CLINVAR
dbSNP (RS) rs104894416 CLINVAR
MedGen C0162361 CLINVAR
NCBI Gene GJB6 CLINVAR
OMIM 129500 CLINVAR
  604418 CLINVAR
OMIM Allele 604418.0005 CLINVAR
SNOMED CT 54209007 CLINVAR