Details for NOD2:c.2798+158C>T,

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5075677450722863
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NOD2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_022162.1
CDNA CHANGE c.2798+158C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.05170.01210.09370.00.1590.0184

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.076201Polymorphism
DBSNP ID NA
25 combinations linked to NOD2:c.2798+158C>T, OLI1750; OLI1751; OLI1754; OLI1755; OLI1756; OLI1757; OLI1762; OLI1763; OLI1764; OLI1765; OLI1767; OLI1768; OLI1769; OLI1770; OLI1773; OLI1774; OLI1776; OLI1778; OLI1780; OLI1781; OLI1782; OLI1785; OLI1786; OLI1787; OLI1789
1 disease linked to NOD2:c.2798+158C>T, Autoinflammatory syndrome
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