Details for SMO:c.1789G>A, p.Asp597Asn

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
128850942129211101
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SMO
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005631.4
CDNA CHANGE c.1789G>A
PROTEIN CHANGE p.Asp597Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.988092Polymorphism
DBSNP ID rs989582182
1 combination linked to SMO:c.1789G>A, p.Asp597Asn OLI429
1 disease linked to SMO:c.1789G>A, p.Asp597Asn Kallmann syndrome
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