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Details for TRIM32:c.1198C>T, p.Arg400Cys

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
119461219	116698940

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1198C>T

PROTEIN CHANGE

p.Arg400Cys

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
3.584e-05	6.171e-05	2.892e-05	0.0	0.0	0.0	5.286e-05	0.0001632	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.428607	Disease causing

DBSNP ID

1 combination linked to TRIM32:c.1198C>T, p.Arg400Cys

1 disease linked to TRIM32:c.1198C>T, p.Arg400Cys

Bardet-Biedl syndrome

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