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Details for CCDC88C:c.3895C>T, p.Arg1299Cys

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
91763720	91297376

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3895C>T

PROTEIN CHANGE

p.Arg1299Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0008	0.0029	0.003	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004421	0.001121	0.002414	0.003404	0.004178	0.002464	0.006607	0.005482	0.00191

ESP
AA	EA
0.001826	0.007246

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.303383	Polymorphism

DBSNP ID

1 combination linked to CCDC88C:c.3895C>T, p.Arg1299Cys

1 disease linked to CCDC88C:c.3895C>T, p.Arg1299Cys

Kallmann syndrome

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