RGD:11594079 Rat Genome Database

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Variant: RGD:11594079 -  Homo sapiens

RGD ID: 11594079
RS ID: rs201092552
ClinVar ID: CV294086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 72,215,618
GRCh38 4 71,349,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012653.1:g.167616C>T
NC_000004.12:g.71349901C>T
NC_000004.11:g.72215618C>T
NM_001098484.3:c.390-11C>T
More... 		07/26/2022 intron variant benign|uncertain significance none provided; RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; RTA, PROXIMAL, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC4A4
Accession:XM_024454269
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454268
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454270
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_011532390
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454272
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454271
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_047416348
Location:INTRON

Gene Symbol:SLC4A4
Accession:NM_003759
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_024454267
Location:INTRON

Gene Symbol:SLC4A4
Accession:NM_001134742
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_017008792
Location:INTRON

Gene Symbol:SLC4A4
Accession:NM_001098484
Location:INTRON

Gene Symbol:SLC4A4
Accession:XM_017008793
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000355173 CLINVAR
  RCV002520264 CLINVAR
dbSNP (RS) rs201092552 CLINVAR
MedGen C1970309 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC4A4 CLINVAR
OMIM 603345 CLINVAR
  604278 CLINVAR