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Details for BBS7:c.442A>C, p.Asn148His

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122780233	121859078

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.442A>C

PROTEIN CHANGE

p.Asn148His

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	Damaging	3.046155	Polymorphism

DBSNP ID

1 combination linked to BBS7:c.442A>C, p.Asn148His

1 disease linked to BBS7:c.442A>C, p.Asn148His

Bardet-Biedl syndrome

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