Details for HAMP:c.148_150+2delATGGT, p.Met50del

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
3577574835284845
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE HAMP
REFERENCE ALLELE GATGGT
ALTERNATE ALLELE G
TRANSCRIPT NM_021175.4
CDNA CHANGE c.148_150+2delATGGT
PROTEIN CHANGE p.Met50del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.298555Polymorphism
DBSNP ID NA
1 combination linked to HAMP:c.148_150+2delATGGT, p.Met50del OLI186
1 disease linked to HAMP:c.148_150+2delATGGT, p.Met50del Rare hereditary hemochromatosis
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