Details for TECRL:c.331+1G>A,

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
6519422964328511
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE TECRL
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001010874.5
CDNA CHANGE c.331+1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.547111Disease causing
DBSNP ID rs1057517699
1 combination linked to TECRL:c.331+1G>A, OLI647
1 disease linked to TECRL:c.331+1G>A, Sudden infant death syndrome

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