rs74315437 Rat Genome Database

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Variant: rs74315437 -  Homo sapiens

RGD ID: 8596596
RS ID: rs74315437
ClinVar ID: CV19890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 37,833,740
GRCh38 21 36,461,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011777.1:g.120128T>A
NC_000021.9:g.36461442A>T
NC_000021.8:g.37833740A>T
NP_001139549.1:p.Val85Asp
More... 		05/22/2022 missense|missense variant pathogenic|likely pathogenic neonatal/infancy Autosomal recessive nonsyndromic deafness; Deafness, autosomal recessive; Deafness, autosomal recessive 29; Impaired Hearing; Nonsyndromic Hearing Loss, Recessive; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CLDN14
Accession:XM_047440735
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMDISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_144492
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMDISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146077
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMDISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146079
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMDISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440736
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMDISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_012130
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMDISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146078
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMDISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

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

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

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

Gene Symbol:CLDN14-AS1
Accession:NR_183534
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
Additional References at PubMed
PMID:11163249   PMID:15880785   PMID:22246673   PMID:25741868   PMID:30303587  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005124 CLINVAR
  RCV000417186 CLINVAR
  RCV001291511 CLINVAR
dbSNP (RS) rs74315437 CLINVAR
MedGen C1384666 CLINVAR
  C1846647 CLINVAR
  C3279660 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR
  607197 CLINVAR
  614035 CLINVAR
OMIM Allele 605608.0002 CLINVAR