Details for FAT4:c.4250C>A, p.Pro1417His

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
126241816125320661
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FAT4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001291285.1
CDNA CHANGE c.4250C>A
PROTEIN CHANGE p.Pro1417His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.209e-050.00.00.00.00.07.074e-050.00.0

ESP
AAEA
0.00.0002442
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.556445Disease causing
DBSNP ID rs201515596
1 combination linked to FAT4:c.4250C>A, p.Pro1417His OLI746
1 disease linked to FAT4:c.4250C>A, p.Pro1417His Isolated anencephaly
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