Details for SETX:c.2385_2387delAAA, p.Ile795_Lys796delinsMet

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
135204601132329214
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SETX
REFERENCE ALLELE TTTA
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.2385_2387delAAA
PROTEIN CHANGE p.Ile795_Lys796delinsMet
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to SETX:c.2385_2387delAAA, p.Ile795_Lys796delinsMet OLI1246
2 diseases linked to SETX:c.2385_2387delAAA, p.Ile795_Lys796delinsMet Progressive non-fluent aphasia; Corticobasal syndrome

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