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Details for AP4M1:c.136C>G, p.Pro46Ala

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
99699580	100101957

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.136C>G

PROTEIN CHANGE

p.Pro46Ala

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
4.41e-05	0.0	0.0	0.0	5.453e-05	0.0	8.905e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.586563	Disease causing

DBSNP ID

1 combination linked to AP4M1:c.136C>G, p.Pro46Ala

1 disease linked to AP4M1:c.136C>G, p.Pro46Ala

Arthrogryposis syndrome

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