RGD:156241525 Rat Genome Database

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Variant: RGD:156241525 -  Homo sapiens

RGD ID: 156241525
ClinVar ID: CV2346920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTGER1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 14,584,673
GRCh38 19 14,473,861
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.460G>A
NC_000019.10:g.14473861C>T
NC_000019.9:g.14584673C>T
NM_000955.2:c.460G>A
More... 		05/31/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTGER1
Accession:NM_000955
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPCGPLNLSLAGEATTCAAPWVPNTSAVPPSGASPALPIFSMTLGAVSNLLALALLAQAAGRLRRRRSAATFLLFVASL
LATDLAGHVIPGALVLRLYTAGRAPAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARTRLALAA
VAAVALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCNTLSGLALLRARWRRRSRR
PPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRSSGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALA
VGGWSSTSLQRPLFLAVRLASWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGLS
HF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004202374 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTGER1 CLINVAR
OMIM 176802 CLINVAR