Details for GNAS:c.205C>A, p.His69Asn

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
5741536658840311
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GNAS
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_016592.5
CDNA CHANGE c.205C>A
PROTEIN CHANGE p.His69Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0050.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00037620.00.00.00.0050330.00.00.00016460.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.585664Polymorphism
DBSNP ID rs187415363
2 combinations linked to GNAS:c.205C>A, p.His69Asn OLI1093; OLI1507
1 disease linked to GNAS:c.205C>A, p.His69Asn Congenital hypothyroidism
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