Details for LAMA3:c.1559G>A, p.Cys520Tyr

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
2136407723784113
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE LAMA3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_198129.2
CDNA CHANGE c.1559G>A
PROTEIN CHANGE p.Cys520Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.593426Disease causing
DBSNP ID NA
1 combination linked to LAMA3:c.1559G>A, p.Cys520Tyr OLI521
1 disease linked to LAMA3:c.1559G>A, p.Cys520Tyr Amelogenesis imperfecta
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