RGD:151351183 Rat Genome Database

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Variant: RGD:151351183 -  Homo sapiens

RGD ID: 151351183
RS ID: rs201023917
ClinVar ID: CV1321093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 42,337,318
GRCh38 17 44,259,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_803t1:c.486-18C>T
NM_000342.4:c.486-18C>T
LRG_803:g.13185C>T
NG_007498.1:g.13185C>T
More... 		07/30/2022 intron variant benign|likely benign Autosomal dominant distal renal tubular acidosis; BLOOD GROUP, DIEGO SYSTEM; BLOOD GROUP--DIEGO SYSTEM; BLOOD GROUP--FROESE; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--WRIGHT ANTIGEN; Cryohydrocytosis; CRYOHYDROCYTOSIS DUE TO BAND 3 BLACKBURN; CRYOHYDROCYTOSIS DUE TO BAND 3 HEMEL; CRYOHYDROCYTOSIS DUE TO BAND 3 HURSTPIERPOINT; Elliptocytosis 4; FROESE BLOOD GROUP ANTIGEN; HE, STOMATOCYTIC; Hereditary cryohydrocytosis with normal stomatin; Hereditary spherocytosis type 4; Malaria, susceptibility to; none provided; Ovalocytosis, Malaysian-Melanesian-Filipino type; Pseudohyperkalemia Cardiff; Renal tubular acidosis 1; RENAL TUBULAR ACIDOSIS, DISTAL, 1; Renal tubular acidosis, distal, 4, with hemolytic anemia; Renal tubular acidosis, distal, with hemolytic anemia; Renal Tubular Acidosis, Type I; RTA, classic type; RTA, distal type, autosomal dominant; RTA, gradient type; SLC4A1-Related Spherocytosis; Southeast Asian ovalocytosis; Spherocytosis type 4; Stomatocytic elliptocytosis, hereditary; Stomatocytosis, cold-sensitive; SWANN BLOOD GROUP; WALDNER BLOOD GROUP ANTIGEN
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC4A1
Accession:XM_011525129
Location:INTRON

Gene Symbol:SLC4A1
Accession:NM_000342
Location:INTRON

Gene Symbol:SLC4A1
Accession:XM_005257593
Location:INTRON

Gene Symbol:SLC4A1
Accession:XM_011525130
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001810772 CLINVAR
  RCV002506835 CLINVAR
dbSNP (RS) rs201023917 CLINVAR
MedGen C1832169 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC4A1 CLINVAR
OMIM 109270 CLINVAR
  110500 CLINVAR
  112010 CLINVAR
  112050 CLINVAR
  166900 CLINVAR
  179800 CLINVAR
  185020 CLINVAR
  601550 CLINVAR
  601551 CLINVAR
  611162 CLINVAR
  611590 CLINVAR
  612653 CLINVAR