RGD:26904693 Rat Genome Database

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Variant: RGD:26904693 -  Homo sapiens

RGD ID: 26904693
RS ID: rs1280675833
ClinVar ID: CV844452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 87,925,503
GRCh38 16 87,891,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367225.1:c.676G>A
NM_001739.2:c.676G>A
NG_033227.2:g.49633G>A
NC_000016.10:g.87891897C>T
More... 		05/21/2019 missense variant uncertain significance Carbonic anhydrase VA deficiency, hyperammonemia due to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CA5A
Accession:XM_047434595
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGRAGGHAPLRPLHSAAHLLELLDLRGLAHHPAADRVGHLDHPEGAR*

Gene Symbol:CA5A
Accession:NM_001739
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWN
SVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWNYWTYAGSLTTPPLT
ESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATNEGTRS*

Gene Symbol:CA5A
Accession:NM_001367225
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWN
SVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWNYWTYAGSLTTPPLT
ESVTWIIQKEPVEVAPSQGALCTHQHLCLLKNGLCQLFLKTGANPETRRYSREAIRAWTH*

Gene Symbol:CA5A
Accession:NR_159798
Location:EXON;NON-CODING

Gene Symbol:CA5A
Accession:NR_159799
Location:EXON;NON-CODING

Gene Symbol:CA5A
Accession:XM_047434594
Location:INTRON

Gene Symbol:CA5A
Accession:XM_005256134
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001036669 CLINVAR
dbSNP (RS) rs1280675833 CLINVAR
MedGen C3810404 CLINVAR
NCBI Gene CA5A CLINVAR
OMIM 114761 CLINVAR
  615751 CLINVAR