Details for TSHR:p.Ile640Leu

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8161032081143976
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TSHR
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ile640Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.696382Polymorphism
DBSNP ID NA
1 combination linked to TSHR:p.Ile640Leu OLI585
1 disease linked to TSHR:p.Ile640Leu Congenital hypothyroidism

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