rs779699092 Rat Genome Database

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Variant: rs779699092 -  Homo sapiens

RGD ID: 11621539
RS ID: rs779699092
ClinVar ID: CV336759
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 37,834,039
GRCh38 21 36,461,741
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.-46G>A
NM_001146079.2:c.-46G>A
NM_012130.4:c.-46G>A
NM_144492.3:c.-46G>A
More... 		05/21/2018 5 prime utr variant likely benign|uncertain significance Deafness, autosomal recessive 29; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLDN14
Accession:NM_001146078
Location:5UTRS;EXON

Gene Symbol:CLDN14
Accession:XM_047440736
Location:5UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_001146079
Location:5UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_001146077
Location:5UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_144492
Location:5UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_012130
Location:5UTRS;EXON

Gene Symbol:CLDN14
Accession:XM_047440735
Location:5UTRS;EXON

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

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

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

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_183534
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000349612 CLINVAR
  RCV000842360 CLINVAR
dbSNP (RS) rs779699092 CLINVAR
MedGen C3279660 CLINVAR
  CN517202 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR
  614035 CLINVAR