This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for ATG4C:c.607dupT, p.Trp203LeufsTer4

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
63284886	62819215

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CT

TRANSCRIPT

N.A.

CDNA CHANGE

c.607dupT

PROTEIN CHANGE

p.Trp203LeufsTer4

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005984	0.0001849	0.0002319	0.0	0.0	0.003422	0.0004858	0.001475	3.27e-05

ESP
AA	EA
0.0	0.0003635

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.881455	Disease causing

DBSNP ID

1 combination linked to ATG4C:c.607dupT, p.Trp203LeufsTer4

1 disease linked to ATG4C:c.607dupT, p.Trp203LeufsTer4

Primary ovarian failure

Found any issues with the data on this page? Report this entry.