Details for DNAJC30:c.130_131del, p.Ser44ValfsTer8

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
7309762573683295
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DNAJC30
REFERENCE ALLELE GAG
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.130_131del
PROTEIN CHANGE p.Ser44ValfsTer8
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneDisease causing
DBSNP ID NA
1 combination linked to DNAJC30:c.130_131del, p.Ser44ValfsTer8 OLI1589
1 disease linked to DNAJC30:c.130_131del, p.Ser44ValfsTer8 Leigh syndrome
Found any issues with the data on this page? Report this entry.