rs117560775 Rat Genome Database

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Variant: rs117560775 - Homo sapiens

RGD ID:

8606908

RS ID:

rs117560775

ClinVar ID:

CV53255

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CLDN14 CLDN14-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	37,833,931
GRCh38	21	36,461,633

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_011777.1:g.119937G>A NC_000021.9:g.36461633C>T NC_000021.8:g.37833931C>T c.63G>A More...	01/29/2024	synonymous variant	benign\|likely benign	AllHighlyPenetrant; Deafness, autosomal recessive 29; none provided

Disease Annotations Click to see Annotation Detail View

autosomal recessive nonsyndromic deafness 29 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CLDN14
Accession:	NM_012130
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	21

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

Gene Symbol:	CLDN14
Accession:	NM_001146078
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	21

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

Gene Symbol:	CLDN14
Accession:	NM_144492
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	21

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

Gene Symbol:	CLDN14
Accession:	NM_001146079
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	21

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

Gene Symbol:	CLDN14
Accession:	XM_047440736
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	21

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

Gene Symbol:	CLDN14
Accession:	XM_047440735
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	21

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

Gene Symbol:	CLDN14
Accession:	NM_001146077
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	21

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

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

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

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

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

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:24033266	PMID:25741868	PMID:26467025	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000037063	CLINVAR
	RCV000384164	CLINVAR
	RCV000991810	CLINVAR
dbSNP (RS)	rs117560775	CLINVAR
MedGen	C3279660	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	CLDN14	CLINVAR
	CLDN14-AS1	CLINVAR
OMIM	605608	CLINVAR
	614035	CLINVAR

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

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Variant: rs117560775 - Homo sapiens

Imported Disease Annotations - ClinVar