rs74315438 Rat Genome Database

Advanced Search (OLGA)

Variant: rs74315438 - Homo sapiens

RGD ID:

8596597

RS ID:

rs74315438

ClinVar ID:

CV19891

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CLDN14 CLDN14-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	37,833,693
GRCh38	21	36,461,395

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.120175G>A NC_000021.9:g.36461395C>T NC_000021.8:g.37833693C>T NP_001139549.1:p.Gly101Arg More...	12/02/2021	missense\|missense variant	pathogenic\|likely pathogenic\|uncertain significance	neonatal/infancy	Deafness, autosomal recessive 29; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

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:	G to R (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	CLDN14
Accession:	XM_047440735
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	CLDN14
Accession:	NM_001146078
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	CLDN14
Accession:	NM_001146079
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	CLDN14
Accession:	NM_144492
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	CLDN14
Accession:	NM_001146077
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	CLDN14
Accession:	XM_047440736
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	101

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

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_183532
Location:	INTRON;NON-CODING

Gene Symbol:	CLDN14-AS1
Accession:	NR_183533
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:15880785	PMID:25741868	PMID:28492532	PMID:33105617

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000005125	CLINVAR
	RCV001762034	CLINVAR
dbSNP (RS)	rs74315438	CLINVAR
MedGen	C3279660	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CLDN14	CLINVAR
	CLDN14-AS1	CLINVAR
OMIM	605608	CLINVAR
	614035	CLINVAR
OMIM Allele	605608.0003	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)

Create Name:

Description:

Send us a Message

Variant: rs74315438 - Homo sapiens

Imported Disease Annotations - ClinVar