Details for LRP10:c.142C>T, p.Arg48Trp

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2334258222873373
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LRP10
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001329226
CDNA CHANGE c.142C>T
PROTEIN CHANGE p.Arg48Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00.00.01590.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.001150.08.677e-059.923e-050.013810.00.00014070.00048920.000392

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.926782Polymorphism
DBSNP ID rs2273837
1 combination linked to LRP10:c.142C>T, p.Arg48Trp OLI1143
1 disease linked to LRP10:c.142C>T, p.Arg48Trp Mayer-Rokitansky-Küster-Hauser syndrome
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