Details for SCUBE2:c.1573C>T, p.Arg525Ter

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
90553089033761
VARIANT EFFECT nonsense
ANNOTATION FLAG manually_attributed
GENE SCUBE2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001170690.2
CDNA CHANGE c.1573C>T
PROTEIN CHANGE p.Arg525Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.976e-056.152e-050.00.00.00027180.03.516e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.35692Disease causing
DBSNP ID rs754234642
1 combination linked to SCUBE2:c.1573C>T, p.Arg525Ter OLI682
1 disease linked to SCUBE2:c.1573C>T, p.Arg525Ter Holoprosencephaly
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