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Details for BBS7:c.1094A>T, p.Gln365Leu

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122766795	121845640

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1094A>T

PROTEIN CHANGE

p.Gln365Leu

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	2.449212	Disease causing

DBSNP ID

1 combination linked to BBS7:c.1094A>T, p.Gln365Leu

1 disease linked to BBS7:c.1094A>T, p.Gln365Leu

46,XY disorder of sex development

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