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Details for THBS2:c.1183G>A, p.Val395Met

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
169637837	169237742

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1183G>A

PROTEIN CHANGE

p.Val395Met

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.226e-05	0.0	0.0001736	0.0	0.0001089	0.0	3.571e-05	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.716451	Polymorphism

DBSNP ID

1 combination linked to THBS2:c.1183G>A, p.Val395Met

1 disease linked to THBS2:c.1183G>A, p.Val395Met

Primary ovarian failure

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