Details for ANXA11:c.767C>T, p.Ser256Phe

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
8192593180166175
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ANXA11
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001157
CDNA CHANGE c.767C>T
PROTEIN CHANGE p.Ser256Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.991e-060.00.00.05.442e-050.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.545784Disease causing
DBSNP ID NA
1 combination linked to ANXA11:c.767C>T, p.Ser256Phe OLI959
1 disease linked to ANXA11:c.767C>T, p.Ser256Phe Amyotrophic lateral sclerosis

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