Details for SPEG:c.6971T>A, p.Ile2324Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
220349156219484434
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SPEG
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_005876.4
CDNA CHANGE c.6971T>A
PROTEIN CHANGE p.Ile2324Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00061290.00013960.00046580.00.04.914e-050.001080.0016826.566e-05

ESP
AAEA
0.00026080.001487
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.804676Disease causing
DBSNP ID rs201170917
1 combination linked to SPEG:c.6971T>A, p.Ile2324Asn OLI793
1 disease linked to SPEG:c.6971T>A, p.Ile2324Asn Arthrogryposis syndrome
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