Details for SLC4A1:c.2582T>A, p.Phe861Tyr

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4232860044251232
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SLC4A1
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.2582T>A
PROTEIN CHANGE p.Phe861Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.907263Disease causing
DBSNP ID NA
1 combination linked to SLC4A1:c.2582T>A, p.Phe861Tyr OLI1616
1 disease linked to SLC4A1:c.2582T>A, p.Phe861Tyr Dent disease
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