RGD:8600714 Rat Genome Database

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Variant: RGD:8600714 -  Homo sapiens

RGD ID: 8600714
RS ID: rs121912741
ClinVar ID: CV32799
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,328,956
GRCh38 17 44,251,588
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007498.1:g.21547G>A
NC_000017.11:g.44251588C>T
NC_000017.10:g.42328956C>T
NP_000333.1:p.Gly771Asp
More... 		08/30/2013 missense|missense variant pathogenic all ages|variable 1-5 / 10 000 SLC4A1-Related Spherocytosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC4A1
Accession:XM_011525130
Location:3UTRS;EXON

Gene Symbol:SLC4A1
Accession:XM_011525129
Location:INTRON

Gene Symbol:SLC4A1
Accession:NM_000342
Location:INTRON

Gene Symbol:SLC4A1
Accession:XM_005257593
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8011524   PMID:8547122  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019337 CLINVAR
dbSNP (RS) rs121912741 CLINVAR
MedGen C2675212 CLINVAR
NCBI Gene SLC4A1 CLINVAR
OMIM 109270 CLINVAR
  612653 CLINVAR
OMIM Allele 109270.0007 CLINVAR