rs139628442 Rat Genome Database

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Variant: rs139628442 -  Homo sapiens

RGD ID: 10051658
RS ID: rs139628442
ClinVar ID: CV193735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 37,833,264
GRCh38 21 36,460,966
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011777.1:g.120604G>C
NC_000021.9:g.36460966C>G
NC_000021.8:g.37833264C>G
NM_001146078.3:c.*10G>C
More... 		05/29/2020 3 prime utr variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; CLDN14-related condition; 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:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_001146079
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_144492
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_001146077
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:XM_047440736
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_012130
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:XM_047440735
Location:3UTRS;EXON

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_183534
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_183530
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000177401 CLINVAR
  RCV000299110 CLINVAR
  RCV001675657 CLINVAR
  RCV003891732 CLINVAR
dbSNP (RS) rs139628442 CLINVAR
MedGen C3279660 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR
  614035 CLINVAR