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 B9D1:p.Arg141Gln

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
19247153	19343840

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg141Gln

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
7.961e-06	6.156e-05	0.0	0.0	5.438e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.801043	Polymorphism

DBSNP ID

1 combination linked to B9D1:p.Arg141Gln

1 disease linked to B9D1:p.Arg141Gln

Holoprosencephaly

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