RGD:8611200 Rat Genome Database

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Variant: RGD:8611200 -  Homo sapiens

RGD ID: 8611200
RS ID: rs7779997
ClinVar ID: CV57501
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC26A5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 103,053,435
GRCh38 7 103,412,988
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023055.1:g.38190T>C
NC_000007.14:g.103412988A>G
NC_000007.13:g.103053435A>G
c.403+14T>C
More... 		06/24/2018 intron|intron variant benign|likely benign AllHighlyPenetrant; Deafness, autosomal recessive 61; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC26A5
Accession:NM_206885
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_206883
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_206884
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_001167962
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_198999
Location:INTRON

Gene Symbol:SLC26A5
Accession:XM_011516170
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_001321787
Location:INTRON

Gene Symbol:SLC26A5
Accession:XM_047420347
Location:INTRON

Gene Symbol:SLC26A5
Accession:NR_120442
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_120443
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_120441
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_135802
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_135801
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:XR_007060034
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000041660 CLINVAR
  RCV001682739 CLINVAR
  RCV001807768 CLINVAR
dbSNP (RS) rs7779997 CLINVAR
MedGen C3151230 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC26A5 CLINVAR
OMIM 604943 CLINVAR
  613865 CLINVAR