RGD:126771553 Rat Genome Database

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Variant: RGD:126771553 -  Homo sapiens

RGD ID: 126771553
RS ID: rs145215237
ClinVar ID: CV1032963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA5A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 87,935,561
GRCh38 16 87,901,955
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1280t1:c.575C>T
NM_001367225.1:c.575C>T
NM_001739.2:c.575C>T
LRG_1280:g.39575C>T
More... 		06/24/2020 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:NM_001739
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWN
SVKYQNYKEAVVGENGLAVIGVFLKLGAHHQMLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWDYWTYAGSLTTPPLT
ESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATNEGTRS*

Gene Symbol:CA5A
Accession:XM_047434594
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASAAFSSLEFCEIPKLQGSCRGREWFGCDRRVFKARGPSSDAAEAGGHL
AGNKT*

Gene Symbol:CA5A
Accession:NM_001367225
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQL
KPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWN
SVKYQNYKEAVVGENGLAVIGVFLKLGAHHQMLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWDYWTYAGSLTTPPLT
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_047434595
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 RCV001345112 CLINVAR
dbSNP (RS) rs145215237 CLINVAR
MedGen C3810404 CLINVAR
NCBI Gene CA5A CLINVAR
OMIM 114761 CLINVAR
  615751 CLINVAR