Details for OPTN:c.1699A>G, p.Thr567Ala

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1317883113136831
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE OPTN
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_021980.4
CDNA CHANGE c.1699A>G
PROTEIN CHANGE p.Thr567Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.268683Disease causing
DBSNP ID NA
1 combination linked to OPTN:c.1699A>G, p.Thr567Ala OLI431
1 disease linked to OPTN:c.1699A>G, p.Thr567Ala Amyotrophic lateral sclerosis
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