RGD:156094183 Rat Genome Database

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Variant: RGD:156094183 -  Homo sapiens

RGD ID: 156094183
ClinVar ID: CV2213309
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2C18  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 96,454,764
GRCh38 10 94,695,007
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128925.2:c.572A>G
NG_008373.1:g.16514A>G
NC_000010.11:g.94695007A>G
NC_000010.10:g.96454764A>G
More... 		12/14/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYP2C18
Accession:NM_000772
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGY
EAVKEALIDHGEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTN
ASPCDPTFILGCAPCNVICSVIFHDRFDYKGQRFLNLMEKFNENLRILSSPWIQVCNNFPALIDYLPGSHNKIAENFAYI
KSYVLERIKEHQESLDMNSARDFIDCFLIKMEQEKHNQQSEFTVESLIATVTDMFGAGTETTSTTLRYGLLLLLKYPEVT
AKVQEEIECVVGRNRSPCMQDRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNYLIPKGTTIITSLTSVLHNDKE
FPNPEMFDPGHFLDKSGNFKKSDYFMPFSAGKRMCMGEGLARMELFLFLTTILQNFNLKSQVDPKDIDITPIANAFGRVP
PLYQLCFIPV*

Gene Symbol:CYP2C18
Accession:NM_001128925
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGY
EAVKEALIDHGEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTN
ASPCDPTFILGCAPCNVICSVIFHDRFDYKGQRFLNLMEKFNENLRILSSPWIQEKHNQQSEFTVESLIATVTDMFGAGT
ETTSTTLRYGLLLLLKYPEVTAKVQEEIECVVGRNRSPCMQDRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNY
LIPKGTTIITSLTSVLHNDKEFPNPEMFDPGHFLDKSGNFKKSDYFMPFSAGKRMCMGEGLARMELFLFLTTILQNFNLK
SQVDPKDIDITPIANAFGRVPPLYQLCFIPV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004085521 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYP2C18 CLINVAR
OMIM 601131 CLINVAR