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Details for POLR3B:c.1244T>C, p.Met415Thr

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
106821117	106427339

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1244T>C

PROTEIN CHANGE

p.Met415Thr

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005536	0.000123	5.785e-05	0.0	0.0	9.239e-05	0.001146	0.0004902	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.828479	Disease causing

DBSNP ID

1 combination linked to POLR3B:c.1244T>C, p.Met415Thr

1 disease linked to POLR3B:c.1244T>C, p.Met415Thr

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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