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Details for BMP4:c.124G>C, p.Ala42Pro

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
54418817	53952099

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.124G>C

PROTEIN CHANGE

p.Ala42Pro

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
0.0002826	0.0	2.892e-05	0.0	0.0	9.249e-05	0.0005719	0.0004892	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.443321	Disease causing

DBSNP ID

1 combination linked to BMP4:c.124G>C, p.Ala42Pro

1 disease linked to BMP4:c.124G>C, p.Ala42Pro

Non-acquired combined pituitary hormone deficiency

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