RGD:11654380 Rat Genome Database

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Variant: RGD:11654380 -  Homo sapiens

RGD ID: 11654380
RS ID: rs886063148
ClinVar ID: CV315288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA2  CA3-AS1  LOC127459861  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 86,376,258
GRCh38 8 85,464,029
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
NM_001293675.2:c.-237G>T
NG_007287.1:g.5013G>T
NC_000008.11:g.85464029G>T
NC_000008.10:g.86376258G>T
More... 		06/14/2016 5 prime utr variant uncertain significance childhood <1 / 1 000 000 Autosomal recessive osteopetrosis type 3; Carbonic anhydrase 2 deficiency; Guibaud Vainsel syndrome; Marble brain disease; Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CA2
Accession:NM_000067
Location:5UTRS;EXON

Gene Symbol:CA2
Accession:NM_001293675
Location:5UTRS;EXON

Gene Symbol:CA3-AS1
Accession:NR_121630
Location:INTRON;NON-CODING

Gene Symbol:CA3-AS1
Accession:NR_121631
Location:INTRON;NON-CODING

Gene Symbol:CA3-AS1
Accession:NR_121632
Location:INTRON;NON-CODING

Gene Symbol:CA3-AS1
Accession:NR_121633
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000317269 CLINVAR
dbSNP (RS) rs886063148 CLINVAR
MedGen C0345407 CLINVAR
NCBI Gene CA2 CLINVAR
  CA3-AS1 CLINVAR
OMIM 259730 CLINVAR
  611492 CLINVAR
SNOMED CT 254122007 CLINVAR