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 PLXNB1:c.4740C>A, p.His1580Gln

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
48454265	48412856

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4740C>A

PROTEIN CHANGE

p.His1580Gln

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.854879	Disease causing

DBSNP ID

1 combination linked to PLXNB1:c.4740C>A, p.His1580Gln

1 disease linked to PLXNB1:c.4740C>A, p.His1580Gln

Kallmann syndrome

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