Details for NEB:c.19101+5G>A,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
152417717151561203
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE NEB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001271208.1
CDNA CHANGE c.19101+5G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.549e-060.03.063e-050.00.00.09.547e-060.00.0

ESP
AAEA
0.00.0001215
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.353404Disease causing
DBSNP ID rs374929094
1 combination linked to NEB:c.19101+5G>A, OLI791
1 disease linked to NEB:c.19101+5G>A, Arthrogryposis syndrome
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