Details for CCDC103:c.461A>C, p.His154Pro

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4297991744902549
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CCDC103
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.461A>C
PROTEIN CHANGE p.His154Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0011940.00030860.00086730.00.00.00.0013990.0011410.003234

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.272607Disease causing
DBSNP ID NA
1 combination linked to CCDC103:c.461A>C, p.His154Pro OLI1653
1 disease linked to CCDC103:c.461A>C, p.His154Pro Kallmann syndrome
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