RGD:405790280 Rat Genome Database

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Variant: RGD:405790280 -  Homo sapiens

RGD ID: 405790280
ClinVar ID: CV3372278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEBP4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 22,584,729
GRCh38 8 22,727,216
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.362C>G
NM_144962.3:c.362C>G
NC_000008.11:g.22727216G>C
NC_000008.10:g.22584729G>C
More... 		02/13/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PEBP4
Accession:NM_001363233
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPIVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGGDLKKGKIQGQELSAYQAPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:NM_144962
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWTMRLVTAALLLGLMMVVTGDEDENSPCAHEALLDEDTLFCQGLEVFYPELGNIGCKVVPDCNNYRQKITSWMEPIVK
FPGAVDGATYILVMVDPDAPSRAEPRQRFWRHWLVTDIKGGDLKKGKIQGQELSAYQAPSPPAHSGFHRYQFFVYLQEGK
VISLLPKENKTRGSWKMDRFLNRFHLGEPEASTQFMTQNYQDSPTLQAPRERASEPKHKNQAEIAAC*

Gene Symbol:PEBP4
Accession:XM_017013103
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004505697 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PEBP4 CLINVAR
OMIM 612473 CLINVAR