Details for SLC34A1:c.272_292del21, p.Val91_Ala97del

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
176813232177386231
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SLC34A1
REFERENCE ALLELE GGTCCCCAAGCTGCGCCAGGCT
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.272_292del21
PROTEIN CHANGE p.Val91_Ala97del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.131639Polymorphism
DBSNP ID NA
2 combinations linked to SLC34A1:c.272_292del21, p.Val91_Ala97del OLI1790; OLI1791
1 disease linked to SLC34A1:c.272_292del21, p.Val91_Ala97del Dent disease
Found any issues with the data on this page? Report this entry.