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Details for MED27:c.770C>T, p.Pro257Leu

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
134735983	131860596

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.770C>T

PROTEIN CHANGE

p.Pro257Leu

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.264263	Disease causing

DBSNP ID

1 combination linked to MED27:c.770C>T, p.Pro257Leu

1 disease linked to MED27:c.770C>T, p.Pro257Leu

Arthrogryposis syndrome

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