Details for HOMER3:c.691G>C, p.Val231Leu

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
1904243418931625
VARIANT EFFECT None
ANNOTATION FLAG None
GENE HOMER3
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.691G>C
PROTEIN CHANGE p.Val231Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0002050.00.00.00.0022740.00038670.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.354687Disease causing
DBSNP ID NA
1 combination linked to HOMER3:c.691G>C, p.Val231Leu OLI1698
1 disease linked to HOMER3:c.691G>C, p.Val231Leu Major depressive disorder
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