RGD:156168691 Rat Genome Database

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Variant: RGD:156168691 -  Homo sapiens

RGD ID: 156168691
ClinVar ID: CV2373815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP7  ZMAT5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 30,127,267
GRCh38 22 29,731,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182527.3:c.*1709G>A
NM_001003692.2:c.460C>T
NM_001318129.2:c.460C>T
NM_019103.3:c.460C>T
More... 		04/14/2022 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CABP7
Accession:NM_182527
Location:3UTRS;EXON

Gene Symbol:ZMAT5
Accession:NM_001318129
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKRYFCDYCDRSFQDNLHNRKKHLNGLQHLKAKKVWYDMFRDAAAILLDEQNKRPCRKFLLTGQCDFGSNCRFSHMSER
DLQELSIQVEEERRAREWLLDAPELPEGHLEDWLEKRAKRLSSAPSSRAEPIRTTVFQYPVGWPPVQELPPSLRAPPPGG
WPLQPRVQWG*

Gene Symbol:ZMAT5
Accession:NM_001003692
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKRYFCDYCDRSFQDNLHNRKKHLNGLQHLKAKKVWYDMFRDAAAILLDEQNKRPCRKFLLTGQCDFGSNCRFSHMSER
DLQELSIQVEEERRAREWLLDAPELPEGHLEDWLEKRAKRLSSAPSSRAEPIRTTVFQYPVGWPPVQELPPSLRAPPPGG
WPLQPRVQWG*

Gene Symbol:ZMAT5
Accession:NM_019103
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKRYFCDYCDRSFQDNLHNRKKHLNGLQHLKAKKVWYDMFRDAAAILLDEQNKRPCRKFLLTGQCDFGSNCRFSHMSER
DLQELSIQVEEERRAREWLLDAPELPEGHLEDWLEKRAKRLSSAPSSRAEPIRTTVFQYPVGWPPVQELPPSLRAPPPGG
WPLQPRVQWG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002698696 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CABP7 CLINVAR
  ZMAT5 CLINVAR
OMIM 618759 CLINVAR
  619741 CLINVAR