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Details for COL6A3:c.3199G>A, p.Val1067Met

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
238283535	237374892

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3199G>A

PROTEIN CHANGE

p.Val1067Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.408e-05	0.0008013	0.0	0.0	5.438e-05	0.0	8.92e-06	0.0003265	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.788048	Polymorphism

DBSNP ID

1 combination linked to COL6A3:c.3199G>A, p.Val1067Met

1 disease linked to COL6A3:c.3199G>A, p.Val1067Met

Sudden infant death syndrome

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