Details for SAMD11:c.682_683insT, p.Pro228LeufsTer227

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
874816939436
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SAMD11
REFERENCE ALLELE C
ALTERNATE ALLELE CT
TRANSCRIPT N.A.
CDNA CHANGE c.682_683insT
PROTEIN CHANGE p.Pro228LeufsTer227
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00023730.00025970.00014940.05.539e-055.021e-050.00026930.00033720.0005013

ESP
AAEA
0.030.05187
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.194078Disease causing
DBSNP ID NA
5 combinations linked to SAMD11:c.682_683insT, p.Pro228LeufsTer227 OLI1042; OLI1045; OLI1054; OLI1058; OLI1067
1 disease linked to SAMD11:c.682_683insT, p.Pro228LeufsTer227 Primary ovarian failure
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