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Details for COL6A1:c.350T>C, p.Val117Ala

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
47404305	45984391

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.350T>C

PROTEIN CHANGE

p.Val117Ala

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
0.0009695	0.0001868	0.0002316	0.0002002	0.0	0.0003248	0.001922	0.0009849	0.0

ESP
AA	EA
0.0	0.001745

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.980636	Polymorphism

DBSNP ID

1 combination linked to COL6A1:c.350T>C, p.Val117Ala

1 disease linked to COL6A1:c.350T>C, p.Val117Ala

Primary ovarian failure

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