RGD:156060040 Rat Genome Database

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Variant: RGD:156060040 -  Homo sapiens

RGD ID: 156060040
ClinVar ID: CV2343750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEBP4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 22,582,461
GRCh38 8 22,724,948
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.22724948C>G
NC_000008.10:g.22582461C>G
NM_144962.2:c.412G>C
NP_001350162.1:p.Ala138Pro
More... 		08/17/2021 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PEBP4
Accession:NM_001363233
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPIVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKIQGQELSAYQPPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:NM_144962
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPIVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKIQGQELSAYQPPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:XM_017013103
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004190772 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PEBP4 CLINVAR
OMIM 612473 CLINVAR