Details for LAMA4:c.5249C>T, p.Pro1750Leu

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
112435335112114132
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE LAMA4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001105207.2
CDNA CHANGE c.5249C>T
PROTEIN CHANGE p.Pro1750Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.0010.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0004420.00.00011580.00069490.00.00.00024660.00016330.002319

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.295882Polymorphism
DBSNP ID rs200177134
1 combination linked to LAMA4:c.5249C>T, p.Pro1750Leu OLI231
1 disease linked to LAMA4:c.5249C>T, p.Pro1750Leu Hypertrophic cardiomyopathy
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