Details for LOXL1:c.1672C>G, p.His558Asp

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7424186973949528
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LOXL1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_005576.4
CDNA CHANGE c.1672C>G
PROTEIN CHANGE p.His558Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.828844Disease causing
DBSNP ID NA
1 combination linked to LOXL1:c.1672C>G, p.His558Asp OLI1695
1 disease linked to LOXL1:c.1672C>G, p.His558Asp Non-Syndromic genetic keratoconus
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