Details for NDP:c.109C>T, p.Arg37Ter

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
4381778343958537
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE NDP
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000266.3
CDNA CHANGE c.109C>T
PROTEIN CHANGE p.Arg37Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.219074Disease causing
DBSNP ID NA
1 combination linked to NDP:c.109C>T, p.Arg37Ter OLI315
1 disease linked to NDP:c.109C>T, p.Arg37Ter Familial exudative vitreoretinopathy

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