RGD:155924558 Rat Genome Database

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Variant: RGD:155924558 -  Homo sapiens

RGD ID: 155924558
ClinVar ID: CV2220343
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127458917  PEBP4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 22,777,723
GRCh38 8 22,920,210
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.22777723T>C
NM_144962.2:c.232A>G
NP_001350162.1:p.Ile78Val
NP_659399.2:p.Ile78Val
More... 		06/11/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PEBP4
Accession:NM_144962
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPVVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKIQGQELSAYQAPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:NM_001363233
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPVVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKIQGQELSAYQAPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:XM_017013103
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004095761 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PEBP4 CLINVAR
OMIM 612473 CLINVAR