rs786204841 Rat Genome Database

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Variant: rs786204841 - Homo sapiens

RGD ID:

10042025

RS ID:

rs786204841

ClinVar ID:

CV187221

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CLDN14 CLDN14-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	37,833,300
GRCh38	21	36,461,002

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	Age of Onset	Trait Synonyms
NG_011777.1:g.120568G>A NC_000021.9:g.36461002C>T NC_000021.8:g.37833300C>T NP_001139549.1:p.Gly232Arg More...	02/26/2019	missense variant	pathogenic\|likely pathogenic\|not provided	neonatal/infancy	Deafness, autosomal recessive 29

Disease Annotations Click to see Annotation Detail View

autosomal recessive nonsyndromic deafness 29 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CLDN14
Accession:	NM_144492
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSRYRLNDYV*

Gene Symbol:	CLDN14
Accession:	NM_001146079
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSRYRLNDYV*

Gene Symbol:	CLDN14
Accession:	NM_012130
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSRYRLNDYV*

Gene Symbol:	CLDN14
Accession:	XM_047440736
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSRYRLNDYV*

Gene Symbol:	CLDN14
Accession:	NM_001146077
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSRYRLNDYV*

Gene Symbol:	CLDN14
Accession:	NM_001146078
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSRYRLNDYV*

Gene Symbol:	CLDN14
Accession:	XM_047440735
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSRYRLNDYV*

Gene Symbol:	CLDN14-AS1
Accession:	NR_183529
Location:	INTRON;NON-CODING

Gene Symbol:	CLDN14-AS1
Accession:	NR_183530
Location:	INTRON;NON-CODING

Gene Symbol:	CLDN14-AS1
Accession:	NR_183534
Location:	INTRON;NON-CODING

Gene Symbol:	CLDN14-AS1
Accession:	NR_183532
Location:	INTRON;NON-CODING

Gene Symbol:	CLDN14-AS1
Accession:	NR_183533
Location:	INTRON;NON-CODING

Gene Symbol:	CLDN14-AS1
Accession:	NR_183531
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:22246673

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000169749	CLINVAR
dbSNP (RS)	rs786204841	CLINVAR
MedGen	C3279660	CLINVAR
NCBI Gene	CLDN14	CLINVAR
	CLDN14-AS1	CLINVAR
OMIM	605608	CLINVAR
	614035	CLINVAR
OMIM Allele	605608.0006	CLINVAR

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

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

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Variant: rs786204841 - Homo sapiens

Imported Disease Annotations - ClinVar