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Details for IFT172:c.986C>T, p.Thr329Met

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
27702395	27479528

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.986C>T

PROTEIN CHANGE

p.Thr329Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.942e-05	0.0	0.0	9.921e-05	0.0	0.0	6.154e-05	0.0	0.0005553

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.233871	Disease causing

DBSNP ID

1 combination linked to IFT172:c.986C>T, p.Thr329Met

1 disease linked to IFT172:c.986C>T, p.Thr329Met

Bardet-Biedl syndrome

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