RGD:405673092 Rat Genome Database

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Variant: RGD:405673092 -  Homo sapiens

RGD ID: 405673092
ClinVar ID: CV3377740
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTGER1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 14,584,424
GRCh38 19 14,473,612
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000955.3:c.709C>G
NC_000019.10:g.14473612G>C
NC_000019.9:g.14584424G>C
NM_000955.2:c.709C>G
More... 		11/17/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTGER1
Accession:NM_000955
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPCGPLNLSLAGEATTCAAPWVPNTSAVPPSGASPALPIFSMTLGAVSNLLALALLAQAAGRLRRRRSAATFLLFVASL
LATDLAGHVIPGALVLRLYTAGRAPAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARARLALAA
VAAVALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCNTLSGLALLRARWRRGSRR
PPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRSSGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALA
VGGWSSTSLQRPLFLAVRLASWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGLS
HF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004515600 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTGER1 CLINVAR
OMIM 176802 CLINVAR