Details for ESR1:c.437C>A, p.Pro146Gln

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
152129484151808349
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ESR1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001122740.2
CDNA CHANGE c.437C>A
PROTEIN CHANGE p.Pro146Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0080.00080.02310.02280.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0058510.0003610.01950.00039750.025020.00011450.00021550.0055250.001668

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.844791Polymorphism
DBSNP ID rs17847065
1 combination linked to ESR1:c.437C>A, p.Pro146Gln OLI1001
2 diseases linked to ESR1:c.437C>A, p.Pro146Gln Androgen insensitivity syndrome; 46,XY disorder of sex development
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