Details for LAMA3:c.3712dup, p.Tyr1238LeufsTer3

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
2142507723845113
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LAMA3
REFERENCE ALLELE C
ALTERNATE ALLELE CT
TRANSCRIPT NM_198129.4
CDNA CHANGE c.3712dup
PROTEIN CHANGE p.Tyr1238LeufsTer3
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.513887Disease causing
DBSNP ID NA
1 combination linked to LAMA3:c.3712dup, p.Tyr1238LeufsTer3 OLI1641
1 disease linked to LAMA3:c.3712dup, p.Tyr1238LeufsTer3 Amelogenesis imperfecta
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