RGD:11628260 Rat Genome Database

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Variant: RGD:11628260 -  Homo sapiens

RGD ID: 11628260
RS ID: rs138242019
ClinVar ID: CV346108
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 42,327,475
GRCh38 17 44,250,107
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007498.1:g.23028G>T
NC_000017.11:g.44250107C>A
NC_000017.10:g.42327475C>A
NM_000342.4:c.*351G>T
More... 		01/12/2018 3 prime utr variant benign|uncertain significance Renal tubular acidosis 1; RENAL TUBULAR ACIDOSIS, DISTAL, 1; Renal Tubular Acidosis, Type I; RTA, classic type; RTA, distal type, autosomal dominant; RTA, gradient type; SLC4A1-Related Spherocytosis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC4A1
Accession:NM_000342
Location:3UTRS;EXON

Gene Symbol:SLC4A1
Accession:XM_011525129
Location:3UTRS;EXON

Gene Symbol:SLC4A1
Accession:XM_005257593
Location:3UTRS;EXON

Gene Symbol:SLC4A1
Accession:XM_011525130
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297912 CLINVAR
  RCV000371331 CLINVAR
  RCV000403331 CLINVAR
dbSNP (RS) rs138242019 CLINVAR
MedGen C0002878 CLINVAR
  C2675212 CLINVAR
  CN280572 CLINVAR
NCBI Gene SLC4A1 CLINVAR
OMIM 109270 CLINVAR
  179800 CLINVAR
  612653 CLINVAR