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Details for BMP7:c.752C>T, p.Thr251Met

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
55777539	57202483

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.752C>T

PROTEIN CHANGE

p.Thr251Met

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
0.0002882	0.0002498	0.0002319	0.0	0.0	0.0001877	0.0004215	0.0004959	0.0001639

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.99634	Polymorphism

DBSNP ID

1 combination linked to BMP7:c.752C>T, p.Thr251Met

2 diseases linked to BMP7:c.752C>T, p.Thr251Met

Androgen insensitivity syndrome; 46,XY disorder of sex development

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