Details for CHD7:c.4549_4563del, p.Ser1517_Thr1521del

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6175421560841656
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE GCATCTGGAAATAGGA
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.4549_4563del
PROTEIN CHANGE p.Ser1517_Thr1521del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.454571None
DBSNP ID NA
1 combination linked to CHD7:c.4549_4563del, p.Ser1517_Thr1521del OLI1113
2 diseases linked to CHD7:c.4549_4563del, p.Ser1517_Thr1521del CHARGE syndrome; Kallmann syndrome
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