RGD:405673078 Rat Genome Database

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Variant: RGD:405673078 -  Homo sapiens

RGD ID: 405673078
ClinVar ID: CV3377736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTGER1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 14,585,087
GRCh38 19 14,474,275
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.46A>G
NC_000019.10:g.14474275T>C
NC_000019.9:g.14585087T>C
NM_000955.2:c.46A>G
More... 		01/12/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTGER1
Accession:NM_000955
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPCGPLNLSLAGEAATCAAPWVPNTSAVPPSGASPALPIFSMTLGAVSNLLALALLAQAAGRLRRRRSAATFLLFVASL
LATDLAGHVIPGALVLRLYTAGRAPAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARARLALAA
VAAVALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCNTLSGLALLRARWRRRSRR
PPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRSSGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALA
VGGWSSTSLQRPLFLAVRLASWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGLS
HF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004515596 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTGER1 CLINVAR
OMIM 176802 CLINVAR