Details for COL4A4:c.2906C>G, p.Ser969Ter

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227917083227052367
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000092.4
CDNA CHANGE c.2906C>G
PROTEIN CHANGE p.Ser969Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.812e-056.457e-050.00.00.00.00.00013240.0001650.0

ESP
AAEA
0.00.0001222
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.441313Disease causing
DBSNP ID rs35138315
1 combination linked to COL4A4:c.2906C>G, p.Ser969Ter OLI381
1 disease linked to COL4A4:c.2906C>G, p.Ser969Ter Alport syndrome
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