RGD:8555876 Rat Genome Database

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Variant: RGD:8555876 -  Homo sapiens

RGD ID: 8555876
RS ID: rs118203933
ClinVar ID: CV15955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 86,386,008
GRCh38 8 85,473,779
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_007287.1:g.14763C>T
NC_000008.11:g.85473779C>T
NC_000008.10:g.86386008C>T
NP_000058.1:p.His107Tyr
More... 		12/01/2009 intron variant|missense|missense variant pathogenic childhood|neonatal/infancy <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:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLK
GGPLDGTYRLIQFHFHWGSLDGQGSEYTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVV
DVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELM
VDNWRPAQPLKNRQIKASFK*

Gene Symbol:CA2
Accession:NM_001293675
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1542674   PMID:1928091   PMID:5041390   PMID:8127074   PMID:8834238  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000964 CLINVAR
dbSNP (RS) rs118203933 CLINVAR
MedGen C0345407 CLINVAR
NCBI Gene CA2 CLINVAR
OMIM 259730 CLINVAR
  611492 CLINVAR
OMIM Allele 611492.0004 CLINVAR
SNOMED CT 254122007 CLINVAR