RGD:11543627 Rat Genome Database

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Variant: RGD:11543627 -  Homo sapiens

RGD ID: 11543627
RS ID: rs703
ClinVar ID: CV253178
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 86,389,403
GRCh38 8 85,477,174
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.18158T>C
NC_000008.11:g.85477174T>C
NC_000008.10:g.86389403T>C
NP_000058.1:p.Leu188=
More...
07/14/2021 synonymous variant benign childhood <1 / 1 000 000 AllHighlyPenetrant; 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_000067
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLK
GGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVV
DVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELM
VDNWRPAQPLKNRQIKASFK*

Gene Symbol:CA2
Accession:NM_001293675
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMLSTWSLMTLRTKQLHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVVDVLDSIKTKGKSADFTNFDPR
GLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242714 CLINVAR
  RCV000386953 CLINVAR
  RCV001522469 CLINVAR
dbSNP (RS) rs703 CLINVAR
MedGen C0345407 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CA2 CLINVAR
OMIM 259730 CLINVAR
  611492 CLINVAR
SNOMED CT 254122007 CLINVAR