RGD:28894352 Rat Genome Database

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Variant: RGD:28894352 -  Homo sapiens

RGD ID: 28894352
RS ID: rs114563047
ClinVar ID: CV892197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 72,436,574
GRCh38 4 71,570,857
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.71570857G>A
NC_000004.11:g.72436574G>A
NG_012653.1:g.388572G>A
NM_001098484.3:c.*3106G>A
More... 		04/27/2017 3 prime utr variant likely benign 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_017008792
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454270
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454272
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_001098484
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454268
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_001134742
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454267
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_017008793
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_011532390
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454269
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454271
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_047416348
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_003759
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001153887 CLINVAR
dbSNP (RS) rs114563047 CLINVAR
MedGen C1970309 CLINVAR
NCBI Gene SLC4A4 CLINVAR
OMIM 603345 CLINVAR
  604278 CLINVAR