Details for ECEL1:c.505_529del, p.Gly169SerfsTer26

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
233350834232486124
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE ECEL1
REFERENCE ALLELE TGGGCCGCGCCGCCAGGCCCACCCCC
ALTERNATE ALLELE T
TRANSCRIPT NM_004826.2
CDNA CHANGE c.505_529del
PROTEIN CHANGE p.Gly169SerfsTer26
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.183e-050.00.00.07.618e-050.01.424e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.843154Disease causing
DBSNP ID rs767987856
1 combination linked to ECEL1:c.505_529del, p.Gly169SerfsTer26 OLI789
1 disease linked to ECEL1:c.505_529del, p.Gly169SerfsTer26 Arthrogryposis syndrome
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