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Details for DCC:c.3842C>T, p.Pro1281Leu

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
51013272	53486902

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3842C>T

PROTEIN CHANGE

p.Pro1281Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.956e-06	0.0	0.0	0.0	0.0001088	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.052592	None

DBSNP ID

1 combination linked to DCC:c.3842C>T, p.Pro1281Leu

1 disease linked to DCC:c.3842C>T, p.Pro1281Leu

Normosmic congenital hypogonadotropic hypogonadism

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