RGD:405285958 Rat Genome Database

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Variant: RGD:405285958 -  Homo sapiens

RGD ID: 405285958
ClinVar ID: CV3221640
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127267918  PLA2G2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 20,305,006
GRCh38 1 19,978,513
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000300.4:c.52G>A
NM_001161727.2:c.52G>A
NM_001161728.2:c.52G>A
NM_001161729.1:c.52G>A
More... 		08/07/2019 missense variant likely benign PLA2G2A-related condition

Variant Details
Variant Transcripts
Gene Symbol:PLA2G2A
Accession:NM_001161728
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*

Gene Symbol:PLA2G2A
Accession:XM_047422594
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*

Gene Symbol:PLA2G2A
Accession:NM_000300
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*

Gene Symbol:PLA2G2A
Accession:NM_001161729
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*

Gene Symbol:PLA2G2A
Accession:NM_001161727
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*

Gene Symbol:PLA2G2A
Accession:XM_047422595
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*

Gene Symbol:PLA2G2A
Accession:XM_047422593
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*

Gene Symbol:PLA2G2A
Accession:NM_001395463
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTLLLLAVIMIFGLLQTHGNLVNFHRMIKLTTGKEAALSYGFYGCHCGVGGRGSPKDATDRCCVTHDCCYKRLEKRGCG
TKFLSYKFSNSGSRITCAKQDSCRSQLCECDKAAATCFARNKTTYNKKYQYYSNKHCRGSTPRC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003981346 CLINVAR
NCBI Gene PLA2G2A CLINVAR
OMIM 172411 CLINVAR