Details for MARS1:c.617C>T, p.Pro206Leu

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
5788411657490333
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE MARS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004990.4
CDNA CHANGE c.617C>T
PROTEIN CHANGE p.Pro206Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00071630.0002475.782e-050.00.00.00018490.0014870.00016310.0

ESP
AAEA
0.00045390.001279
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.709595Polymorphism
DBSNP ID rs138776588
1 combination linked to MARS1:c.617C>T, p.Pro206Leu OLI331
1 disease linked to MARS1:c.617C>T, p.Pro206Leu Amyotrophic lateral sclerosis
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