This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for COL27A1:c.3715C>T, p.Arg1239Trp

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
117038046	114275766

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3715C>T

PROTEIN CHANGE

p.Arg1239Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0061	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002987	0.002283	0.0004974	0.0	9.065e-05	0.0	0.0001417	0.0002363	0.000134

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	5.050953	Polymorphism

DBSNP ID

1 combination linked to COL27A1:c.3715C>T, p.Arg1239Trp

1 disease linked to COL27A1:c.3715C>T, p.Arg1239Trp

46,XY disorder of sex development

Found any issues with the data on this page? Report this entry.