Details for CLCN7:c.857G>C, p.Arg286Pro

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
15061731456172
VARIANT EFFECT unknown
ANNOTATION FLAG manually_attributed
GENE CLCN7
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001287.5
CDNA CHANGE c.857G>C
PROTEIN CHANGE p.Arg286Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.302207Disease causing
DBSNP ID None
1 combination linked to CLCN7:c.857G>C, p.Arg286Pro OLI515
1 disease linked to CLCN7:c.857G>C, p.Arg286Pro Osteopetrosis and related disorders
Found any issues with the data on this page? Report this entry.