RGD:21072248 Rat Genome Database

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Variant: RGD:21072248 -  Homo sapiens

RGD ID: 21072248
RS ID: rs1203921376
ClinVar ID: CV792774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 86,389,420
GRCh38 8 85,477,191
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.276C>G
NP_000058.1:p.Tyr193Ter
NP_001280604.1:p.Tyr92Ter
NC_000008.10:g.86389420C>G
More... 		06/20/2019 nonsense likely pathogenic 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CA2
Accession:NM_000067
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLK
GGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVV
DVLDSIKTKGKSADFTNFDPRGLLPESLDYWT*PGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELM
VDNWRPAQPLKNRQIKASFK*

Gene Symbol:CA2
Accession:NM_001293675
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMLSTWSLMTLRTKQLHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVVDVLDSIKTKGKSADFTNFDPR
GLLPESLDYWT*PGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000991390 CLINVAR
  RCV002274114 CLINVAR
dbSNP (RS) rs1203921376 CLINVAR
MedGen C0345407 CLINVAR
  C4022738 CLINVAR
NCBI Gene CA2 CLINVAR
OMIM 259730 CLINVAR
  611492 CLINVAR
SNOMED CT 254122007 CLINVAR