RGD:401778626 Rat Genome Database

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Variant: RGD:401778626 -  Homo sapiens

RGD ID: 401778626
ClinVar ID: CV2709373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEBP4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 22,584,691
GRCh38 8 22,727,178
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363233.2:c.400T>C
NM_144962.3:c.400T>C
NC_000008.11:g.22727178A>G
NC_000008.10:g.22584691A>G
More... 		05/03/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PEBP4
Accession:NM_001363233
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPIVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKIQGQELPAYQAPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:NM_144962
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPIVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGADLKKGKIQGQELPAYQAPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:XM_017013103
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004316514 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PEBP4 CLINVAR
OMIM 612473 CLINVAR