rs769599110 Rat Genome Database

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Variant: rs769599110 -  Homo sapiens

RGD ID: 126910812
RS ID: rs769599110
ClinVar ID: CV1053398
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 37,833,630
GRCh38 21 36,461,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001146078.3:c.364G>A
NM_001146079.2:c.364G>A
NM_012130.4:c.364G>A
NG_011777.1:g.120238G>A
More... 		08/09/2022 missense variant uncertain significance Deafness, autosomal recessive 29; Impaired Hearing; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
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:NM_001146079
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGSTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_144492
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGSTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440735
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGSTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146077
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGSTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146078
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGSTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_012130
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGSTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440736
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGSTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

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

Gene Symbol:CLDN14-AS1
Accession:NR_183532
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_183533
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:30311386  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001375416 CLINVAR
  RCV002276718 CLINVAR
  RCV002493911 CLINVAR
dbSNP (RS) rs769599110 CLINVAR
MedGen C1384666 CLINVAR
  C3279660 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR
  614035 CLINVAR