Details for COL4A4:c.4421C>T, p.Thr1474Met

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227875130227010414
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000092.4
CDNA CHANGE c.4421C>T
PROTEIN CHANGE p.Thr1474Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014846.462e-050.00.00.0016690.04.42e-050.00016520.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.891005Polymorphism
DBSNP ID rs201615111
1 combination linked to COL4A4:c.4421C>T, p.Thr1474Met OLI033
1 disease linked to COL4A4:c.4421C>T, p.Thr1474Met Alport syndrome
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