RGD:8646918 Rat Genome Database

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Variant: RGD:8646918 -  Homo sapiens

RGD ID: 8646918
RS ID: rs117704637
ClinVar ID: CV106435
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA4  LOC127887506  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 58,235,763
GRCh38 17 60,158,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.60158402G>A
NC_000017.10:g.58235763G>A
NP_000708.1:p.Val234Ile
NM_000717.3:c.700G>A
More...
06/14/2016 missense|missense variant benign|likely benign|not provided AllHighlyPenetrant; none provided; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CA4
Accession:NM_000717
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVIWTVFRE
PIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_047436652
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEIGRMNWPPPLAPCRLSQDPSLPFQAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRH
YFRYLGSLTTPTCDEKVIWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALP
ALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_011525183
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLV
EIGRMNWPPPLAPCRLSQDPSLPFQAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTT
PTCDEKVIWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACL
LAGFLR*

Gene Symbol:CA4
Accession:XM_047436651
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEIGRMNWPPPLAPCRLSQDPSLPFQAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRH
YFRYLGSLTTPTCDEKVIWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALP
ALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_047436655
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVIWTVFRE
PIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_005257639
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEIGRMNWPPPLAPCRLSQDPSLPFQAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRH
YFRYLGSLTTPTCDEKVIWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALP
ALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_047436654
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVIWTVFRE
PIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_047436656
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVIWTVFRE
PIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_047436650
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEIGRMNWPPPLAPCRLSQDPSLPFQAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRH
YFRYLGSLTTPTCDEKVIWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALP
ALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:XM_047436653
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQT
WTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
DEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVIWTVFRE
PIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR*

Gene Symbol:CA4
Accession:NR_137422
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000086935 CLINVAR
  RCV000179783 CLINVAR
  RCV000330174 CLINVAR
dbSNP (RS) rs117704637 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CA4 CLINVAR
OMIM 114760 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR