RGD:26886274 Rat Genome Database

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Variant: RGD:26886274 -  Homo sapiens

RGD ID: 26886274
RS ID: rs539558180
ClinVar ID: CV835056
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 86,389,490
GRCh38 8 85,477,261
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001293675.2:c.346G>A
NM_000067.3:c.649G>A
NG_007287.1:g.18245G>A
NM_000067.2:c.649G>A
More... 		05/07/2019 missense variant uncertain significance Autosomal recessive osteopetrosis type 3; Carbonic anhydrase 2 deficiency; Guibaud Vainsel syndrome; Marble brain disease; none provided; 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_001293675
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMLSTWSLMTLRTKQLHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVVDVLDSIKTKGKSADFTNFDPR
GLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISISSEQVLKFRKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK*

Gene Symbol:CA2
Accession:NM_000067
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLK
GGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVV
DVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISISSEQVLKFRKLNFNGEGEPEELM
VDNWRPAQPLKNRQIKASFK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001054735 CLINVAR
  RCV002489638 CLINVAR
dbSNP (RS) rs539558180 CLINVAR
MedGen C0345407 CLINVAR
  C3661900 CLINVAR
NCBI Gene CA2 CLINVAR
OMIM 259730 CLINVAR
  611492 CLINVAR
SNOMED CT 254122007 CLINVAR