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Details for CSMD1:c.4012C>T, p.Pro1338Ser

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
3141807	3284285

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4012C>T

PROTEIN CHANGE

p.Pro1338Ser

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
4.015e-06	0.0	0.0	0.0	0.0	0.0	8.86e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.734864	Polymorphism

DBSNP ID

1 combination linked to CSMD1:c.4012C>T, p.Pro1338Ser

1 disease linked to CSMD1:c.4012C>T, p.Pro1338Ser

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