RGD:11615297 Rat Genome Database

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Variant: RGD:11615297 -  Homo sapiens

RGD ID: 11615297
RS ID: rs75489266
ClinVar ID: CV338663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,340,294
GRCh38 17 44,262,926
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.10209G>A
NC_000017.11:g.44262926C>T
NC_000017.10:g.42340294C>T
NM_000342.4:c.-60G>A
More... 		01/13/2018 5 prime utr variant benign|likely 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:XM_011525130
Location:5UTRS;EXON

Gene Symbol:SLC4A1
Accession:NM_000342
Location:5UTRS;EXON

Gene Symbol:SLC4A1
Accession:XM_011525129
Location:5UTRS;EXON

Gene Symbol:SLC4A1
Accession:XM_005257593
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000284321 CLINVAR
  RCV000336909 CLINVAR
  RCV000376466 CLINVAR
  RCV003922371 CLINVAR
dbSNP (RS) rs75489266 CLINVAR
MedGen C0002878 CLINVAR
  C2675212 CLINVAR
  CN280572 CLINVAR
NCBI Gene SLC4A1 CLINVAR
OMIM 109270 CLINVAR
  179800 CLINVAR
  612653 CLINVAR