RGD:156020956 Rat Genome Database

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Variant: RGD:156020956 -  Homo sapiens

RGD ID: 156020956
ClinVar ID: CV2081480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC26A5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 103,052,034
GRCh38 7 103,411,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001167962.2:c.404-1G>C
NM_001321787.2:c.404-1G>C
NM_198999.3:c.404-1G>C
NM_206883.3:c.404-1G>C
More... 		09/07/2022 splice acceptor variant likely pathogenic none provided

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

Gene Symbol:SLC26A5
Accession:NM_001321787
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_198999
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_206883
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_001167962
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_206884
Location:INTRON

Gene Symbol:SLC26A5
Accession:XM_011516170
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:XR_007060034
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:12239568   PMID:16199547   PMID:24164807   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002866605 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC26A5 CLINVAR
OMIM 604943 CLINVAR