RGD:8608369 Rat Genome Database

Variant: RGD:8608369 - Homo sapiens

RGD ID:

8608369

RS ID:

rs111033338

ClinVar ID:

CV54670

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GJB6

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	13	20,797,025
GRCh38	13	20,222,886

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008323.1:g.14510T>A NC_000013.11:g.20222886A>T NC_000013.10:g.20797025A>T NM_001370092.1:c.595T>A More...	12/31/2019	missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	AllHighlyPenetrant; Autosomal dominant hidrotic ectodermal dysplasia; Autosomal dominant nonsyndromic hearing loss 3B; Autosomal recessive nonsyndromic hearing loss 1B; 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 1A; Deafness, autosomal recessive 1b; DFNB 1 Nonsyndromic Hearing Loss and Deafness; ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; Ectodermal dysplasia 2, hidrotic; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome; none provided; Nonsyndromic Hearing Loss and Deafness, DFNB1

Disease Annotations Click to see Annotation Detail View

autosomal dominant nonsyndromic deafness 3B (IAGP)

autosomal recessive nonsyndromic deafness 1A (IAGP)

autosomal recessive nonsyndromic deafness 1B (IAGP)

Clouston syndrome (IAGP)

ectodermal dysplasia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Hidrotic ectodermal dysplasia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GJB6
Accession:	XM_047430056
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	XM_047430057
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	NM_001370092
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	NM_001370090
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	NM_006783
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	NM_001110221
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	NM_001370091
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	NM_001110219
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Gene Symbol:	GJB6
Accession:	NM_001110220
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQ LIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISATVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:10610709	PMID:24033266	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000038709	CLINVAR
	RCV000543942	CLINVAR
	RCV001088010	CLINVAR
	RCV001110052	CLINVAR
dbSNP (RS)	rs111033338	CLINVAR
MedGen	C0162361	CLINVAR
	C2673759	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	GJB6	CLINVAR
OMIM	129500	CLINVAR
	220290	CLINVAR
	604418	CLINVAR
	612643	CLINVAR
	612645	CLINVAR
SNOMED CT	54209007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:8608369 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8608369 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar