Details for FREM1:c.1394G>C, p.Gly465Ala

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
1484265814842660
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE FREM1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_144966.7
CDNA CHANGE c.1394G>C
PROTEIN CHANGE p.Gly465Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.020.01510.01590.02380.0080.0378

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.019090.01080.042460.0020190.018110.00091420.0098070.017750.04917

ESP
AAEA
0.010250.009711
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.584292Polymorphism
DBSNP ID rs41298151
1 combination linked to FREM1:c.1394G>C, p.Gly465Ala OLI499
2 diseases linked to FREM1:c.1394G>C, p.Gly465Ala Congenital diaphragmatic hernia; Marfan syndrome
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